Linked Data
dbSNP Id:
rs1345815951
gnomAD v2:
6-35791205-C-CAT
gnomAD v3:
6-35823428-C-CAT
gnomAD v4:
6-35823428-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823430_35823431dup , CM000668.2:g.35823430_35823431dup | GRCh38 |
| NC_000006.11:g.35791207_35791208dup , CM000668.1:g.35791207_35791208dup | GRCh37 |
| NC_000006.10:g.35899185_35899186dup | NCBI36 |
| NG_012184.1:g.23137_23138dup | |
| NG_012184.2:g.23137_23138dup | |
| NG_012184.3:g.31225_31226dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*465_*466dup MANE Select | ENSP00000353346.1:n.*465_*466dup | |
| ENST00000496656.2:n.578+3610_578+3611dup | ||
| ENST00000651132.1:c.*465_*466dup | ENSP00000498322.1:n.*465_*466dup | |
| ENST00000651676.1:c.*16+3967_*16+3968dup | ENSP00000498699.1:n.*16+3967_*16+3968dup | |
| ENST00000651994.1:c.*545_*546dup | ENSP00000498310.1:n.*545_*546dup | |
| ENST00000652718.1:c.508+3967_508+3968dup | ENSP00000498866.1:n.508+3967_508+3968dup | |
| ENST00000360215.2:c.*465_*466dup | ENSP00000353346.1:n.*465_*466dup | |
| ENST00000496656.1:n.812+3610_812+3611dup | ||
| NM_182548.3:c.*465_*466dup | NP_872354.1:n.*465_*466dup | |
| NM_182548.4:c.*465_*466dup MANE Select | NP_872354.1:n.*465_*466dup |