Linked Data
dbSNP Id:
rs749733628
ExAC:
2:223066911 T / TA
gnomAD v2:
2-223066911-T-TA
gnomAD v3:
2-222202192-T-TA
gnomAD v4:
2-222202192-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222202199dup , CM000664.2:g.222202199dup | GRCh38 |
| NC_000002.11:g.223066918dup , CM000664.1:g.223066918dup | GRCh37 |
| NC_000002.10:g.222775162dup | NCBI36 |
| NG_011632.1:g.101789dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.1174-751dup | ENSP00000338767.5:n.1174-751dup | |
| ENST00000344493.9:c.1174-751dup | ENSP00000342092.4:n.1174-751dup | |
| ENST00000350526.9:c.1174-3dup | ENSP00000343052.4:n.1174-3dup | |
| ENST00000392070.7:c.1174-3dup MANE Select | ENSP00000375922.3:n.1174-3dup | |
| ENST00000464706.6:n.612-3dup | ||
| ENST00000644699.1:n.500-3dup | ||
| ENST00000646154.1:n.988-3dup | ||
| ENST00000336840.10:c.1174-751dup | ENSP00000338767.5:n.1174-751dup | |
| ENST00000344493.8:c.1174-751dup | ENSP00000342092.4:n.1174-751dup | |
| ENST00000350526.8:c.1174-3dup | ENSP00000343052.4:n.1174-3dup | |
| ENST00000392069.6:c.1174-3dup | ENSP00000375921.2:n.1174-3dup | |
| ENST00000392070.6:c.1174-3dup | ENSP00000375922.2:n.1174-3dup | |
| ENST00000409551.7:c.1171-3dup | ENSP00000386750.3:n.1171-3dup | |
| ENST00000464706.5:n.598-3dup | ||
| ENST00000555548.1:n.405-3dup | ||
| NM_001127366.2:c.1171-3dup | NP_001120838.1:n.1171-3dup | |
| NM_181457.3:c.1174-3dup | NP_852122.1:n.1174-3dup | |
| NM_181458.3:c.1174-3dup | NP_852123.1:n.1174-3dup | |
| NM_181459.3:c.1174-3dup | NP_852124.1:n.1174-3dup | |
| NM_181460.3:c.1174-751dup | NP_852125.1:n.1174-751dup | |
| NM_181461.3:c.1174-751dup | NP_852126.1:n.1174-751dup | |
| XM_011511278.1:c.1318-3dup | XP_011509580.1:n.1318-3dup | |
| XM_011511279.1:c.610-3dup | XP_011509581.1:n.610-3dup | |
| NM_001127366.3:c.1171-3dup | NP_001120838.1:n.1171-3dup | |
| NM_181457.4:c.1174-3dup | NP_852122.1:n.1174-3dup | |
| NM_181458.4:c.1174-3dup MANE Select | NP_852123.1:n.1174-3dup | |
| NM_181459.4:c.1174-3dup | NP_852124.1:n.1174-3dup | |
| NM_181460.4:c.1174-751dup | NP_852125.1:n.1174-751dup | |
| NM_181461.4:c.1174-751dup | NP_852126.1:n.1174-751dup |