Linked Data
dbSNP Id:
rs763034037
ExAC:
1:45798387 TAA / T
gnomAD v2:
1-45798387-TAA-T
gnomAD v4:
1-45332715-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332716_45332717del , CM000663.2:g.45332716_45332717del | GRCh38 |
| NC_000001.10:g.45798388_45798389del , CM000663.1:g.45798388_45798389del | GRCh37 |
| NC_000001.9:g.45570975_45570976del | NCBI36 |
| NG_008189.1:g.12754_12755del , LRG_220:g.12754_12755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.109-30_109-29del | ENSP00000410263.2:n.109-30_109-29del | |
| ENST00000435155.2:c.526-30_526-29del | ENSP00000403655.2:n.526-30_526-29del | |
| ENST00000467459.6:c.493-30_493-29del | ENSP00000435889.2:n.493-30_493-29del | |
| ENST00000483127.2:c.511-30_511-29del | ENSP00000436469.2:n.511-30_511-29del | |
| ENST00000485271.6:c.493-30_493-29del | ENSP00000431264.2:n.493-30_493-29del | |
| ENST00000529892.6:c.535-30_535-29del | ENSP00000432528.2:n.535-30_535-29del | |
| ENST00000533178.6:c.116-30_116-29del | ENSP00000436430.2:n.116-30_116-29del | |
| ENST00000672314.2:c.493-30_493-29del | ENSP00000500828.2:n.493-30_493-29del | |
| ENST00000674679.2:c.*405-30_*405-29del | ENSP00000501623.2:n.*405-30_*405-29del | |
| ENST00000710952.2:c.577-30_577-29del MANE Plus Clinical | ENSP00000518552.2:n.577-30_577-29del | |
| ENST00000672818.3:c.568-30_568-29del | ENSP00000500891.1:n.568-30_568-29del | |
| ENST00000450313.6:c.503-30_503-29del | ENSP00000408176.2:n.503-30_503-29del | |
| ENST00000456914.7:c.493-30_493-29del MANE Select | ENSP00000407590.2:n.493-30_493-29del | |
| ENST00000461495.6:c.*232-30_*232-29del | ENSP00000437166.1:n.*232-30_*232-29del | |
| ENST00000671856.1:n.439-30_439-29del | ||
| ENST00000671898.1:c.1081-30_1081-29del | ENSP00000499896.1:n.1081-30_1081-29del | |
| ENST00000672011.1:c.461-30_461-29del | ENSP00000500418.1:n.461-30_461-29del | |
| ENST00000672314.1:c.493-30_493-29del | ENSP00000500828.1:n.493-30_493-29del | |
| ENST00000672593.1:c.*351_*352del | ENSP00000500455.1:n.*351_*352del | |
| ENST00000672764.1:c.452-30_452-29del | ENSP00000500886.1:n.452-30_452-29del | |
| ENST00000672818.2:c.568-30_568-29del | ENSP00000500891.1:n.568-30_568-29del | |
| ENST00000673134.1:c.*190-30_*190-29del | ENSP00000500526.1:n.*190-30_*190-29del | |
| ENST00000674679.1:c.521-30_521-29del | ENSP00000501623.1:n.521-30_521-29del | |
| ENST00000354383.10:c.496-30_496-29del | ENSP00000346354.6:n.496-30_496-29del | |
| ENST00000355498.6:c.493-30_493-29del | ENSP00000347685.2:n.493-30_493-29del | |
| ENST00000372098.7:c.568-30_568-29del | ENSP00000361170.3:n.568-30_568-29del | |
| ENST00000372104.5:c.493-30_493-29del | ENSP00000361176.1:n.493-30_493-29del | |
| ENST00000372110.7:c.538-30_538-29del | ENSP00000361182.3:n.538-30_538-29del | |
| ENST00000372115.7:c.535-30_535-29del | ENSP00000361187.3:n.535-30_535-29del | |
| ENST00000412971.5:c.109-30_109-29del | ENSP00000410263.1:n.109-30_109-29del | |
| ENST00000435155.1:c.526-30_526-29del | ENSP00000403655.1:n.526-30_526-29del | |
| ENST00000448481.5:c.526-30_526-29del | ENSP00000409718.1:n.526-30_526-29del | |
| ENST00000450313.5:c.577-30_577-29del | ENSP00000408176.1:n.577-30_577-29del | |
| ENST00000456914.6:c.493-30_493-29del | ENSP00000407590.2:n.493-30_493-29del | |
| ENST00000461495.5:c.*232-30_*232-29del | ENSP00000437166.1:n.*232-30_*232-29del | |
| ENST00000462388.5:n.184-30_184-29del | ||
| ENST00000467940.5:c.*416-30_*416-29del | ENSP00000436478.1:n.*416-30_*416-29del | |
| ENST00000470256.5:c.380-30_380-29del | ENSP00000434985.1:n.380-30_380-29del | |
| ENST00000475516.5:c.*306-30_*306-29del | ENSP00000433843.1:n.*306-30_*306-29del | |
| ENST00000478796.5:n.480-30_480-29del | ||
| ENST00000479746.6:n.821_822del | ||
| ENST00000481139.5:n.1011_1012del | ||
| ENST00000481571.5:c.*306-30_*306-29del | ENSP00000436597.1:n.*306-30_*306-29del | |
| ENST00000483642.5:n.1008-30_1008-29del | ||
| ENST00000488731.6:c.187+46_187+47del | ENSP00000432330.1:n.187+46_187+47del | |
| ENST00000492494.5:n.890-30_890-29del | ||
| ENST00000525160.5:c.*144-30_*144-29del | ENSP00000431568.1:n.*144-30_*144-29del | |
| ENST00000528013.6:c.535-30_535-29del | ENSP00000433130.2:n.535-30_535-29del | |
| ENST00000529984.5:c.187+46_187+47del | ENSP00000437093.1:n.187+46_187+47del | |
| ENST00000531105.5:c.115+1674_115+1675del | ENSP00000431292.1:n.115+1674_115+1675del | |
| ENST00000533178.5:c.122-30_122-29del | ENSP00000436430.1:n.122-30_122-29del | |
| NM_001048171.1:c.535-30_535-29del | NP_001041636.1:n.535-30_535-29del | |
| NM_001048172.1:c.496-30_496-29del | NP_001041637.1:n.496-30_496-29del | |
| NM_001048173.1:c.493-30_493-29del | NP_001041638.1:n.493-30_493-29del | |
| NM_001048174.1:c.493-30_493-29del | NP_001041639.1:n.493-30_493-29del | |
| NM_001128425.1:c.577-30_577-29del , LRG_220t1:c.577-30_577-29del | NP_001121897.1:n.577-30_577-29del | |
| NM_001293190.1:c.538-30_538-29del | NP_001280119.1:n.538-30_538-29del | |
| NM_001293191.1:c.526-30_526-29del | NP_001280120.1:n.526-30_526-29del | |
| NM_001293192.1:c.217-30_217-29del | NP_001280121.1:n.217-30_217-29del | |
| NM_001293195.1:c.493-30_493-29del | NP_001280124.1:n.493-30_493-29del | |
| NM_001293196.1:c.217-30_217-29del | NP_001280125.1:n.217-30_217-29del | |
| NM_012222.2:c.568-30_568-29del | NP_036354.1:n.568-30_568-29del | |
| XM_011541497.1:c.553-30_553-29del | XP_011539799.1:n.553-30_553-29del | |
| XM_011541498.1:c.535-30_535-29del | XP_011539800.1:n.535-30_535-29del | |
| XM_011541499.1:c.535-30_535-29del | XP_011539801.1:n.535-30_535-29del | |
| XM_011541500.1:c.535-30_535-29del | XP_011539802.1:n.535-30_535-29del | |
| XM_011541501.1:c.535-30_535-29del | XP_011539803.1:n.535-30_535-29del | |
| XM_011541502.1:c.535-30_535-29del | XP_011539804.1:n.535-30_535-29del | |
| XM_011541503.1:c.535-30_535-29del | XP_011539805.1:n.535-30_535-29del | |
| XM_011541504.1:c.526-30_526-29del | XP_011539806.1:n.526-30_526-29del | |
| XM_011541505.1:c.115-30_115-29del | XP_011539807.1:n.115-30_115-29del | |
| XM_011541506.1:c.115-30_115-29del | XP_011539808.1:n.115-30_115-29del | |
| XM_011541507.1:c.106-30_106-29del | XP_011539809.1:n.106-30_106-29del | |
| XM_011541508.1:c.121-30_121-29del | XP_011539810.1:n.121-30_121-29del | |
| XR_946658.1:n.624-30_624-29del | ||
| NM_001350650.1:c.148-30_148-29del | NP_001337579.1:n.148-30_148-29del | |
| NM_001350651.1:c.148-30_148-29del | NP_001337580.1:n.148-30_148-29del | |
| NR_146882.1:n.751-30_751-29del | ||
| NR_146883.1:n.565-30_565-29del | ||
| XM_011541497.3:c.553-30_553-29del | XP_011539799.1:n.553-30_553-29del | |
| XM_011541500.3:c.535-30_535-29del | XP_011539802.1:n.535-30_535-29del | |
| XM_011541501.2:c.535-30_535-29del | XP_011539803.1:n.535-30_535-29del | |
| XM_011541502.2:c.535-30_535-29del | XP_011539804.1:n.535-30_535-29del | |
| XM_011541503.2:c.535-30_535-29del | XP_011539805.1:n.535-30_535-29del | |
| XM_011541504.2:c.526-30_526-29del | XP_011539806.1:n.526-30_526-29del | |
| XM_011541505.2:c.115-30_115-29del | XP_011539807.1:n.115-30_115-29del | |
| XM_011541506.2:c.115-30_115-29del | XP_011539808.1:n.115-30_115-29del | |
| XM_017001331.1:c.535-30_535-29del | XP_016856820.1:n.535-30_535-29del | |
| XM_017001332.1:c.535-30_535-29del | XP_016856821.1:n.535-30_535-29del | |
| XM_017001333.1:c.535-30_535-29del | XP_016856822.1:n.535-30_535-29del | |
| XM_017001334.1:c.496-30_496-29del | XP_016856823.1:n.496-30_496-29del | |
| XM_017001335.1:c.217-30_217-29del | XP_016856824.1:n.217-30_217-29del | |
| XM_017001336.1:c.148-30_148-29del | XP_016856825.1:n.148-30_148-29del | |
| XM_017001337.1:c.148-30_148-29del | XP_016856826.1:n.148-30_148-29del | |
| XM_024447244.1:c.148-30_148-29del | XP_024303012.1:n.148-30_148-29del | |
| XM_024447245.1:c.148-30_148-29del | XP_024303013.1:n.148-30_148-29del | |
| XM_024447248.1:c.106-30_106-29del | XP_024303016.1:n.106-30_106-29del | |
| XM_024447249.1:c.-24-30_-24-29del | XP_024303017.1:n.-24-30_-24-29del | |
| XM_024447250.1:c.-24-30_-24-29del | XP_024303018.1:n.-24-30_-24-29del | |
| XM_024447251.1:c.-24-30_-24-29del | XP_024303019.1:n.-24-30_-24-29del | |
| XR_001737190.1:n.538-30_538-29del | ||
| XR_001737192.1:n.350-30_350-29del | ||
| XR_002956643.1:n.530-30_530-29del | ||
| XR_002956644.1:n.1065-30_1065-29del | ||
| XR_946658.2:n.638-30_638-29del | ||
| NM_001048171.2:c.493-30_493-29del | NP_001041636.2:n.493-30_493-29del | |
| NM_001128425.2:c.577-30_577-29del MANE Plus Clinical | NP_001121897.1:n.577-30_577-29del | |
| NM_001048172.2:c.496-30_496-29del | NP_001041637.1:n.496-30_496-29del | |
| NM_001048173.2:c.493-30_493-29del | NP_001041638.1:n.493-30_493-29del | |
| NM_001048174.2:c.493-30_493-29del MANE Select | NP_001041639.1:n.493-30_493-29del | |
| NM_001293190.2:c.538-30_538-29del | NP_001280119.1:n.538-30_538-29del | |
| NM_001293191.2:c.526-30_526-29del | NP_001280120.1:n.526-30_526-29del | |
| NM_001293192.2:c.217-30_217-29del | NP_001280121.1:n.217-30_217-29del | |
| NM_001293195.2:c.493-30_493-29del | NP_001280124.1:n.493-30_493-29del | |
| NM_001293196.2:c.217-30_217-29del | NP_001280125.1:n.217-30_217-29del | |
| NM_001350650.2:c.148-30_148-29del | NP_001337579.1:n.148-30_148-29del | |
| NM_001350651.2:c.148-30_148-29del | NP_001337580.1:n.148-30_148-29del | |
| NM_012222.3:c.568-30_568-29del | NP_036354.1:n.568-30_568-29del | |
| NR_146882.2:n.721-30_721-29del | ||
| NR_146883.2:n.570-30_570-29del |