Linked Data
ClinVar Variation Id:
371677
dbSNP Id:
rs1057517457
gnomAD v3:
1-45332803-TAGCCCAGGCC-T
gnomAD v4:
1-45332803-TAGCCCAGGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332811_45332820del , CM000663.2:g.45332811_45332820del | GRCh38 |
| NC_000001.10:g.45798483_45798492del , CM000663.1:g.45798483_45798492del | GRCh37 |
| NC_000001.9:g.45571070_45571079del | NCBI36 |
| NG_008189.1:g.12658_12667del , LRG_220:g.12658_12667del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.58_67del | ENSP00000410263.2:p.Gly20ThrfsTer16 | |
| ENST00000435155.2:c.475_484del | ENSP00000403655.2:p.Gly159ThrfsTer16 | |
| ENST00000467459.6:c.442_451del | ENSP00000435889.2:p.Gly148ThrfsTer16 | |
| ENST00000483127.2:c.460_469del | ENSP00000436469.2:p.Gly154ThrfsTer16 | |
| ENST00000485271.6:c.442_451del | ENSP00000431264.2:p.Gly148ThrfsTer16 | |
| ENST00000529892.6:c.484_493del | ENSP00000432528.2:p.Gly162ThrfsTer16 | |
| ENST00000533178.6:c.116-126_116-117del | ENSP00000436430.2:n.116-126_116-117del | |
| ENST00000672314.2:c.442_451del | ENSP00000500828.2:p.Gly148ThrfsTer16 | |
| ENST00000674679.2:c.*354_*363del | ENSP00000501623.2:n.*354_*363del | |
| ENST00000710952.2:c.526_535del MANE Plus Clinical | ENSP00000518552.2:p.Gly176ThrfsTer16 | |
| ENST00000672818.3:c.517_526del | ENSP00000500891.1:p.Gly173ThrfsTer16 | |
| ENST00000450313.6:c.452_461del | ENSP00000408176.2:p.Trp151TyrfsTer? | |
| ENST00000456914.7:c.442_451del MANE Select | ENSP00000407590.2:p.Gly148ThrfsTer16 | |
| ENST00000461495.6:c.*181_*190del | ENSP00000437166.1:n.*181_*190del | |
| ENST00000671856.1:n.388_397del | ||
| ENST00000671898.1:c.1030_1039del | ENSP00000499896.1:p.Gly344ThrfsTer16 | |
| ENST00000672011.1:c.410_419del | ENSP00000500418.1:p.Trp137TyrfsTer? | |
| ENST00000672314.1:c.442_451del | ENSP00000500828.1:p.Gly148ThrfsTer16 | |
| ENST00000672593.1:c.*255_*264del | ENSP00000500455.1:n.*255_*264del | |
| ENST00000672764.1:c.401_410del | ENSP00000500886.1:p.Trp134TyrfsTer? | |
| ENST00000672818.2:c.517_526del | ENSP00000500891.1:p.Gly173ThrfsTer16 | |
| ENST00000673134.1:c.*139_*148del | ENSP00000500526.1:n.*139_*148del | |
| ENST00000674679.1:c.470_479del | ENSP00000501623.1:n.470_479del | |
| ENST00000354383.10:c.445_454del | ENSP00000346354.6:p.Gly149ThrfsTer16 | |
| ENST00000355498.6:c.442_451del | ENSP00000347685.2:p.Gly148ThrfsTer16 | |
| ENST00000372098.7:c.517_526del | ENSP00000361170.3:p.Gly173ThrfsTer16 | |
| ENST00000372104.5:c.442_451del | ENSP00000361176.1:p.Gly148ThrfsTer16 | |
| ENST00000372110.7:c.487_496del | ENSP00000361182.3:p.Gly163ThrfsTer16 | |
| ENST00000372115.7:c.484_493del | ENSP00000361187.3:p.Gly162ThrfsTer16 | |
| ENST00000412971.5:c.58_67del | ENSP00000410263.1:p.Gly20ThrfsTer16 | |
| ENST00000435155.1:c.475_484del | ENSP00000403655.1:p.Gly159ThrfsTer16 | |
| ENST00000448481.5:c.475_484del | ENSP00000409718.1:p.Gly159ThrfsTer16 | |
| ENST00000450313.5:c.526_535del | ENSP00000408176.1:p.Gly176ThrfsTer16 | |
| ENST00000456914.6:c.442_451del | ENSP00000407590.2:p.Gly148ThrfsTer16 | |
| ENST00000461495.5:c.*181_*190del | ENSP00000437166.1:n.*181_*190del | |
| ENST00000462388.5:n.133_142del | ||
| ENST00000467940.5:c.*365_*374del | ENSP00000436478.1:n.*365_*374del | |
| ENST00000470256.5:c.329_338del | ENSP00000434985.1:p.Trp110TyrfsTer? | |
| ENST00000475516.5:c.*255_*264del | ENSP00000433843.1:n.*255_*264del | |
| ENST00000476789.5:n.882_891del | ||
| ENST00000478796.5:n.429_438del | ||
| ENST00000479746.6:n.725_734del | ||
| ENST00000481139.5:n.915_924del | ||
| ENST00000481571.5:c.*255_*264del | ENSP00000436597.1:n.*255_*264del | |
| ENST00000483642.5:n.957_966del | ||
| ENST00000485484.5:n.743_752del | ||
| ENST00000488731.6:c.137_146del | ENSP00000432330.1:p.Trp46TyrfsTer26 | |
| ENST00000492494.5:n.839_848del | ||
| ENST00000525160.5:c.*93_*102del | ENSP00000431568.1:n.*93_*102del | |
| ENST00000528013.6:c.484_493del | ENSP00000433130.2:p.Gly162ThrfsTer16 | |
| ENST00000529984.5:c.137_146del | ENSP00000437093.1:p.Trp46TyrfsTer26 | |
| ENST00000531105.5:c.115+1578_115+1587del | ENSP00000431292.1:n.115+1578_115+1587del | |
| ENST00000533178.5:c.122-126_122-117del | ENSP00000436430.1:n.122-126_122-117del | |
| NM_001048171.1:c.484_493del | NP_001041636.1:p.Gly162ThrfsTer16 | |
| NM_001048172.1:c.445_454del | NP_001041637.1:p.Gly149ThrfsTer16 | |
| NM_001048173.1:c.442_451del | NP_001041638.1:p.Gly148ThrfsTer16 | |
| NM_001048174.1:c.442_451del | NP_001041639.1:p.Gly148ThrfsTer16 | |
| NM_001128425.1:c.526_535del , LRG_220t1:c.526_535del | NP_001121897.1:p.Gly176ThrfsTer16 | |
| NM_001293190.1:c.487_496del | NP_001280119.1:p.Gly163ThrfsTer16 | |
| NM_001293191.1:c.475_484del | NP_001280120.1:p.Gly159ThrfsTer16 | |
| NM_001293192.1:c.166_175del | NP_001280121.1:p.Gly56ThrfsTer16 | |
| NM_001293195.1:c.442_451del | NP_001280124.1:p.Gly148ThrfsTer16 | |
| NM_001293196.1:c.166_175del | NP_001280125.1:p.Gly56ThrfsTer16 | |
| NM_012222.2:c.517_526del | NP_036354.1:p.Gly173ThrfsTer16 | |
| XM_011541497.1:c.502_511del | XP_011539799.1:p.Gly168ThrfsTer16 | |
| XM_011541498.1:c.484_493del | XP_011539800.1:p.Gly162ThrfsTer16 | |
| XM_011541499.1:c.484_493del | XP_011539801.1:p.Gly162ThrfsTer16 | |
| XM_011541500.1:c.484_493del | XP_011539802.1:p.Gly162ThrfsTer16 | |
| XM_011541501.1:c.484_493del | XP_011539803.1:p.Gly162ThrfsTer16 | |
| XM_011541502.1:c.484_493del | XP_011539804.1:p.Gly162ThrfsTer16 | |
| XM_011541503.1:c.484_493del | XP_011539805.1:p.Gly162ThrfsTer16 | |
| XM_011541504.1:c.475_484del | XP_011539806.1:p.Gly159ThrfsTer16 | |
| XM_011541505.1:c.64_73del | XP_011539807.1:p.Gly22ThrfsTer16 | |
| XM_011541506.1:c.64_73del | XP_011539808.1:p.Gly22ThrfsTer16 | |
| XM_011541507.1:c.55_64del | XP_011539809.1:p.Gly19ThrfsTer16 | |
| XM_011541508.1:c.70_79del | XP_011539810.1:p.Gly24ThrfsTer16 | |
| XR_946658.1:n.573_582del | ||
| NM_001350650.1:c.97_106del | NP_001337579.1:p.Gly33ThrfsTer16 | |
| NM_001350651.1:c.97_106del | NP_001337580.1:p.Gly33ThrfsTer16 | |
| NR_146882.1:n.700_709del | ||
| NR_146883.1:n.514_523del | ||
| XM_011541497.3:c.502_511del | XP_011539799.1:p.Gly168ThrfsTer16 | |
| XM_011541500.3:c.484_493del | XP_011539802.1:p.Gly162ThrfsTer16 | |
| XM_011541501.2:c.484_493del | XP_011539803.1:p.Gly162ThrfsTer16 | |
| XM_011541502.2:c.484_493del | XP_011539804.1:p.Gly162ThrfsTer16 | |
| XM_011541503.2:c.484_493del | XP_011539805.1:p.Gly162ThrfsTer16 | |
| XM_011541504.2:c.475_484del | XP_011539806.1:p.Gly159ThrfsTer16 | |
| XM_011541505.2:c.64_73del | XP_011539807.1:p.Gly22ThrfsTer16 | |
| XM_011541506.2:c.64_73del | XP_011539808.1:p.Gly22ThrfsTer16 | |
| XM_017001331.1:c.484_493del | XP_016856820.1:p.Gly162ThrfsTer16 | |
| XM_017001332.1:c.484_493del | XP_016856821.1:p.Gly162ThrfsTer16 | |
| XM_017001333.1:c.484_493del | XP_016856822.1:p.Gly162ThrfsTer16 | |
| XM_017001334.1:c.445_454del | XP_016856823.1:p.Gly149ThrfsTer16 | |
| XM_017001335.1:c.166_175del | XP_016856824.1:p.Gly56ThrfsTer16 | |
| XM_017001336.1:c.97_106del | XP_016856825.1:p.Gly33ThrfsTer16 | |
| XM_017001337.1:c.97_106del | XP_016856826.1:p.Gly33ThrfsTer16 | |
| XM_024447244.1:c.97_106del | XP_024303012.1:p.Gly33ThrfsTer16 | |
| XM_024447245.1:c.97_106del | XP_024303013.1:p.Gly33ThrfsTer16 | |
| XM_024447248.1:c.55_64del | XP_024303016.1:p.Gly19ThrfsTer16 | |
| XM_024447249.1:c.-75_-66del | XP_024303017.1:n.-75_-66del | |
| XM_024447250.1:c.-75_-66del | XP_024303018.1:n.-75_-66del | |
| XM_024447251.1:c.-75_-66del | XP_024303019.1:n.-75_-66del | |
| XR_001737190.1:n.487_496del | ||
| XR_001737192.1:n.299_308del | ||
| XR_002956643.1:n.479_488del | ||
| XR_002956644.1:n.1014_1023del | ||
| XR_946658.2:n.587_596del | ||
| NM_001048171.2:c.442_451del | NP_001041636.2:p.Gly148ThrfsTer16 | |
| NM_001128425.2:c.526_535del MANE Plus Clinical | NP_001121897.1:p.Gly176ThrfsTer16 | |
| NM_001048172.2:c.445_454del | NP_001041637.1:p.Gly149ThrfsTer16 | |
| NM_001048173.2:c.442_451del | NP_001041638.1:p.Gly148ThrfsTer16 | |
| NM_001048174.2:c.442_451del MANE Select | NP_001041639.1:p.Gly148ThrfsTer16 | |
| NM_001293190.2:c.487_496del | NP_001280119.1:p.Gly163ThrfsTer16 | |
| NM_001293191.2:c.475_484del | NP_001280120.1:p.Gly159ThrfsTer16 | |
| NM_001293192.2:c.166_175del | NP_001280121.1:p.Gly56ThrfsTer16 | |
| NM_001293195.2:c.442_451del | NP_001280124.1:p.Gly148ThrfsTer16 | |
| NM_001293196.2:c.166_175del | NP_001280125.1:p.Gly56ThrfsTer16 | |
| NM_001350650.2:c.97_106del | NP_001337579.1:p.Gly33ThrfsTer16 | |
| NM_001350651.2:c.97_106del | NP_001337580.1:p.Gly33ThrfsTer16 | |
| NM_012222.3:c.517_526del | NP_036354.1:p.Gly173ThrfsTer16 | |
| NR_146882.2:n.670_679del | ||
| NR_146883.2:n.519_528del |