Linked Data
dbSNP Id:
rs774524359
ExAC:
6:31322934 ACAACT / A
gnomAD v2:
6-31322934-ACAACT-A
gnomAD v3:
6-31355157-ACAACT-A
gnomAD v4:
6-31355157-ACAACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355158_31355162del , CM000668.2:g.31355158_31355162del | GRCh38 |
| NC_000006.11:g.31322935_31322939del , CM000668.1:g.31322935_31322939del | GRCh37 |
| NC_000006.10:g.31430914_31430918del | NCBI36 |
| NG_023187.1:g.7051_7055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3004_3008del | ||
| ENST00000481849.6:n.2523_2527del | ||
| ENST00000497377.6:n.2430_2434del | ||
| ENST00000640094.2:c.895+155_895+159del | ENSP00000491275.2:n.895+155_895+159del | |
| ENST00000696558.1:c.1026_1030del | ENSP00000512716.1:n.1026_1030del | |
| ENST00000696559.1:c.957_961del | ENSP00000512717.1:p.Val320GlyfsTer12 | |
| ENST00000696560.1:c.957_961del | ENSP00000512718.1:p.Val320GlyfsTer12 | |
| ENST00000696561.1:c.957_961del | ENSP00000512719.1:p.Val320GlyfsTer12 | |
| ENST00000696562.1:c.957_961del | ENSP00000512720.1:p.Val320GlyfsTer12 | |
| ENST00000412585.7:c.957_961del MANE Select | ENSP00000399168.2:p.Val320GlyfsTer12 | |
| ENST00000640094.1:c.88+155_88+159del | ENSP00000491275.1:n.88+155_88+159del | |
| ENST00000412585.6:c.957_961del | ENSP00000399168.2:p.Val320GlyfsTer12 | |
| ENST00000463574.1:n.548_552del | ||
| NM_005514.6:c.957_961del | NP_005505.2:p.Val320GlyfsTer12 | |
| XM_011514556.1:c.990_994del | XP_011512858.1:p.Val331GlyfsTer12 | |
| XM_011514557.1:c.895+155_895+159del | XP_011512859.1:n.895+155_895+159del | |
| XR_926175.1:n.1396_1400del | ||
| NM_005514.7:c.957_961del | NP_005505.2:p.Val320GlyfsTer12 | |
| NM_005514.8:c.957_961del MANE Select | NP_005505.2:p.Val320GlyfsTer12 |