Linked Data
dbSNP Id:
rs1413394605
gnomAD v3:
15-91174206-TAGAAGGTTCTCTGG-T
gnomAD v4:
15-91174206-TAGAAGGTTCTCTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91174207_91174220del , CM000677.2:g.91174207_91174220del | GRCh38 |
| NC_000015.9:g.91717437_91717450del , CM000677.1:g.91717437_91717450del | GRCh37 |
| NC_000015.8:g.89518441_89518454del | NCBI36 |
| NG_051558.1:g.79487_79500del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394232.6:c.-391-51666_-391-51653del MANE Select | ENSP00000377779.1:n.-391-51666_-391-51653del | |
| ENST00000394232.5:c.-391-51666_-391-51653del | ENSP00000377779.1:n.-391-51666_-391-51653del | |
| ENST00000545111.6:c.-3+73844_-3+73857del | ENSP00000443243.2:n.-3+73844_-3+73857del | |
| ENST00000557291.1:n.493+71887_493+71900del | ||
| ENST00000557410.5:c.-392+45397_-392+45410del | ENSP00000450992.1:n.-392+45397_-392+45410del | |
| NM_001167580.1:c.-3+73844_-3+73857del | NP_001161052.1:n.-3+73844_-3+73857del | |
| NM_014848.4:c.-392+45397_-392+45410del | NP_055663.1:n.-392+45397_-392+45410del | |
| XM_005254997.3:c.-391-51666_-391-51653del | XP_005255054.1:n.-391-51666_-391-51653del | |
| XM_011522263.1:c.-391-51666_-391-51653del | XP_011520565.1:n.-391-51666_-391-51653del | |
| XM_011522264.1:c.-391-51666_-391-51653del | XP_011520566.1:n.-391-51666_-391-51653del | |
| NM_001167580.2:c.-3+73844_-3+73857del | NP_001161052.1:n.-3+73844_-3+73857del | |
| NM_001323031.2:c.-391-51666_-391-51653del | NP_001309960.1:n.-391-51666_-391-51653del | |
| NM_001323032.2:c.-391-51666_-391-51653del | NP_001309961.1:n.-391-51666_-391-51653del | |
| NM_001323033.2:c.-391-51666_-391-51653del | NP_001309962.1:n.-391-51666_-391-51653del | |
| NM_001323034.2:c.-391-51666_-391-51653del | NP_001309963.1:n.-391-51666_-391-51653del | |
| NM_001323036.2:c.22+73109_22+73122del | NP_001309965.1:n.22+73109_22+73122del | |
| NM_001323037.2:c.-392+45397_-392+45410del | NP_001309966.1:n.-392+45397_-392+45410del | |
| NM_001323038.2:c.-391-51666_-391-51653del | NP_001309967.1:n.-391-51666_-391-51653del | |
| NM_001323039.2:c.-391-51666_-391-51653del | NP_001309968.1:n.-391-51666_-391-51653del | |
| NM_001323040.2:c.-3+45397_-3+45410del | NP_001309969.1:n.-3+45397_-3+45410del | |
| NM_014848.6:c.-392+45397_-392+45410del | NP_055663.1:n.-392+45397_-392+45410del | |
| NM_001167580.3:c.-3+73844_-3+73857del | NP_001161052.1:n.-3+73844_-3+73857del | |
| NM_001323032.3:c.-391-51666_-391-51653del MANE Select | NP_001309961.1:n.-391-51666_-391-51653del | |
| NM_001323033.3:c.-391-51666_-391-51653del | NP_001309962.1:n.-391-51666_-391-51653del | |
| NM_001323034.3:c.-391-51666_-391-51653del | NP_001309963.1:n.-391-51666_-391-51653del | |
| NM_001323036.3:c.22+73109_22+73122del | NP_001309965.1:n.22+73109_22+73122del | |
| NM_001323037.3:c.-392+45397_-392+45410del | NP_001309966.1:n.-392+45397_-392+45410del | |
| NM_001323038.3:c.-391-51666_-391-51653del | NP_001309967.1:n.-391-51666_-391-51653del | |
| NM_001323039.3:c.-391-51666_-391-51653del | NP_001309968.1:n.-391-51666_-391-51653del | |
| NM_001323040.3:c.-3+45397_-3+45410del | NP_001309969.1:n.-3+45397_-3+45410del | |
| NM_014848.7:c.-392+45397_-392+45410del | NP_055663.1:n.-392+45397_-392+45410del |