Linked Data
dbSNP Id:
rs751896445
ExAC:
2:190660687 TTA / T
gnomAD v2:
2-190660687-TTA-T
gnomAD v4:
2-189795961-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189795965_189795966del , CM000664.2:g.189795965_189795966del | GRCh38 |
| NC_000002.11:g.190660691_190660692del , CM000664.1:g.190660691_190660692del | GRCh37 |
| NC_000002.10:g.190368936_190368937del | NCBI36 |
| NG_008648.1:g.16881_16882del , LRG_221:g.16881_16882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441310.7:c.315+14_315+15del MANE Select | ENSP00000406490.3:n.315+14_315+15del | |
| ENST00000639501.1:c.315+14_315+15del | ENSP00000491236.1:n.315+14_315+15del | |
| ENST00000342075.8:c.315+14_315+15del | ENSP00000343888.4:n.315+14_315+15del | |
| ENST00000374826.8:c.315+14_315+15del | ENSP00000363959.4:n.315+14_315+15del | |
| ENST00000409823.7:c.315+14_315+15del | ENSP00000387125.3:n.315+14_315+15del | |
| ENST00000409985.5:c.315+14_315+15del | ENSP00000386623.1:n.315+14_315+15del | |
| ENST00000418224.7:c.315+14_315+15del | ENSP00000404492.4:n.315+14_315+15del | |
| ENST00000421722.5:n.401+14_401+15del | ||
| ENST00000424059.1:n.315+14_315+15del | ||
| ENST00000424307.5:c.132+4024_132+4025del | ENSP00000389938.1:n.132+4024_132+4025del | |
| ENST00000424766.5:c.315+14_315+15del | ENSP00000410082.1:n.315+14_315+15del | |
| ENST00000432292.7:c.-111+4024_-111+4025del | ENSP00000398378.3:n.-111+4024_-111+4025del | |
| ENST00000441310.6:c.315+14_315+15del | ENSP00000406490.2:n.315+14_315+15del | |
| ENST00000447232.6:c.315+14_315+15del | ENSP00000401064.2:n.315+14_315+15del | |
| ENST00000447734.5:c.132+4024_132+4025del | ENSP00000411151.1:n.132+4024_132+4025del | |
| ENST00000450931.5:c.315+14_315+15del | ENSP00000406225.1:n.315+14_315+15del | |
| ENST00000618056.4:c.315+14_315+15del | ENSP00000480632.1:n.315+14_315+15del | |
| ENST00000624204.3:c.-111+14_-111+15del | ENSP00000485312.1:n.-111+14_-111+15del | |
| NM_000534.4:c.315+14_315+15del , LRG_221t1:c.315+14_315+15del | NP_000525.1:n.315+14_315+15del | |
| NM_001128143.1:c.315+14_315+15del | NP_001121615.1:n.315+14_315+15del | |
| NM_001128144.1:c.315+14_315+15del | NP_001121616.1:n.315+14_315+15del | |
| NM_001289408.1:c.-111+14_-111+15del | NP_001276337.1:n.-111+14_-111+15del | |
| NM_001289409.1:c.-111+4024_-111+4025del | NP_001276338.1:n.-111+4024_-111+4025del | |
| NR_110332.1:n.941+14_941+15del | ||
| XM_005246647.2:c.315+14_315+15del | XP_005246704.1:n.315+14_315+15del | |
| XM_005246649.2:c.315+14_315+15del | XP_005246706.1:n.315+14_315+15del | |
| XM_011511353.1:c.315+14_315+15del | XP_011509655.1:n.315+14_315+15del | |
| XM_011511354.1:c.315+14_315+15del | XP_011509656.1:n.315+14_315+15del | |
| XM_011511355.1:c.132+4024_132+4025del | XP_011509657.1:n.132+4024_132+4025del | |
| XM_011511357.1:c.315+14_315+15del | XP_011509659.1:n.315+14_315+15del | |
| XR_922951.1:n.479+14_479+15del | ||
| NM_001321044.1:c.315+14_315+15del | NP_001307973.1:n.315+14_315+15del | |
| NM_001321045.1:c.315+14_315+15del | NP_001307974.1:n.315+14_315+15del | |
| NM_001321046.1:c.132+4024_132+4025del | NP_001307975.1:n.132+4024_132+4025del | |
| NM_001321047.1:c.315+14_315+15del | NP_001307976.1:n.315+14_315+15del | |
| NM_001321048.1:c.315+14_315+15del | NP_001307977.1:n.315+14_315+15del | |
| NM_001321049.1:c.315+14_315+15del | NP_001307978.1:n.315+14_315+15del | |
| NM_001321051.1:c.315+14_315+15del | NP_001307980.1:n.315+14_315+15del | |
| XM_011511356.3:c.-1009+14_-1009+15del | XP_011509658.1:n.-1009+14_-1009+15del | |
| XM_017004344.1:c.315+14_315+15del | XP_016859833.1:n.315+14_315+15del | |
| XM_017004345.1:c.132+4024_132+4025del | XP_016859834.1:n.132+4024_132+4025del | |
| XM_017004346.2:c.132+4024_132+4025del | XP_016859835.1:n.132+4024_132+4025del | |
| XM_017004347.1:c.132+4024_132+4025del | XP_016859836.1:n.132+4024_132+4025del | |
| XM_017004348.1:c.315+14_315+15del | XP_016859837.1:n.315+14_315+15del | |
| XM_017004349.2:c.-1009+14_-1009+15del | XP_016859838.1:n.-1009+14_-1009+15del | |
| XM_017004350.1:c.132+4024_132+4025del | XP_016859839.1:n.132+4024_132+4025del | |
| XM_024452964.1:c.315+14_315+15del | XP_024308732.1:n.315+14_315+15del | |
| XM_024452965.1:c.315+14_315+15del | XP_024308733.1:n.315+14_315+15del | |
| XM_024452966.1:c.315+14_315+15del | XP_024308734.1:n.315+14_315+15del | |
| XM_024452967.1:c.315+14_315+15del | XP_024308735.1:n.315+14_315+15del | |
| XM_024452968.1:c.-111+14_-111+15del | XP_024308736.1:n.-111+14_-111+15del | |
| XM_024452969.1:c.-111+14_-111+15del | XP_024308737.1:n.-111+14_-111+15del | |
| XR_001738779.1:n.570+14_570+15del | ||
| XR_002959307.1:n.575+14_575+15del | ||
| XR_922951.2:n.473+14_473+15del | ||
| NM_000534.5:c.315+14_315+15del MANE Select | NP_000525.1:n.315+14_315+15del | |
| NM_001128143.2:c.315+14_315+15del | NP_001121615.1:n.315+14_315+15del | |
| NM_001128144.2:c.315+14_315+15del | NP_001121616.1:n.315+14_315+15del | |
| NM_001321044.2:c.315+14_315+15del | NP_001307973.1:n.315+14_315+15del | |
| NM_001321045.2:c.315+14_315+15del | NP_001307974.1:n.315+14_315+15del | |
| NM_001321046.2:c.132+4024_132+4025del | NP_001307975.1:n.132+4024_132+4025del | |
| NM_001321047.2:c.315+14_315+15del | NP_001307976.1:n.315+14_315+15del | |
| NM_001321048.2:c.315+14_315+15del | NP_001307977.1:n.315+14_315+15del | |
| NM_001321049.2:c.315+14_315+15del | NP_001307978.1:n.315+14_315+15del | |
| NR_110332.2:n.576+14_576+15del | ||
| NM_001289408.2:c.-111+14_-111+15del | NP_001276337.1:n.-111+14_-111+15del | |
| NM_001289409.2:c.-111+4024_-111+4025del | NP_001276338.1:n.-111+4024_-111+4025del | |
| NM_001321051.2:c.315+14_315+15del | NP_001307980.1:n.315+14_315+15del |