Linked Data
dbSNP Id:
rs761075074
gnomAD v2:
11-2799126-C-CA
gnomAD v3:
11-2777896-C-CA
gnomAD v4:
11-2777896-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777897dup , CM000673.2:g.2777897dup | GRCh38 |
| NC_000011.9:g.2799127dup , CM000673.1:g.2799127dup | GRCh37 |
| NC_000011.8:g.2755703dup | NCBI36 |
| NG_008935.1:g.337907dup , LRG_287:g.337907dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1376-79dup | ENSP00000434560.2:n.1376-79dup | |
| ENST00000646564.2:c.1193-79dup | ENSP00000495806.2:n.1193-79dup | |
| ENST00000155840.12:c.1733-79dup MANE Select | ENSP00000155840.2:n.1733-79dup | |
| ENST00000335475.6:c.1352-79dup | ENSP00000334497.5:n.1352-79dup | |
| ENST00000526095.2:c.137-79dup | ENSP00000494939.1:n.137-79dup | |
| ENST00000646564.1:c.839-79dup | ENSP00000495806.1:n.839-79dup | |
| ENST00000155840.9:c.1733-79dup | ENSP00000155840.2:n.1733-79dup | |
| ENST00000335475.5:c.1352-79dup | ENSP00000334497.5:n.1352-79dup | |
| ENST00000526095.1:n.240-79dup | ||
| NM_000218.2:c.1733-79dup , LRG_287t1:c.1733-79dup | NP_000209.2:n.1733-79dup | |
| NM_181798.1:c.1352-79dup , LRG_287t2:c.1352-79dup | NP_861463.1:n.1352-79dup | |
| NM_000218.3:c.1733-79dup MANE Select | NP_000209.2:n.1733-79dup |