Linked Data
dbSNP Id:
rs1917877764
gnomAD v3:
19-6682031-C-CTGGGGAAAGG
gnomAD v4:
19-6682031-C-CTGGGGAAAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682035_6682044dup , CM000681.2:g.6682035_6682044dup | GRCh38 |
| NC_000019.9:g.6682046_6682055dup , CM000681.1:g.6682046_6682055dup | GRCh37 |
| NC_000019.8:g.6633046_6633055dup | NCBI36 |
| NG_009557.1:g.43611_43620dup , LRG_27:g.43611_43620dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2609-11_2609-2dup | ||
| ENST00000695653.1:c.2170-11_2170-2dup | ENSP00000512084.1:n.2170-11_2170-2dup | |
| ENST00000695654.1:c.3286-11_3286-2dup | ENSP00000512085.1:n.3286-11_3286-2dup | |
| ENST00000695689.1:c.232-11_232-2dup | ENSP00000512101.1:n.232-11_232-2dup | |
| ENST00000695690.1:n.452-11_452-2dup | ||
| ENST00000695691.1:n.452-11_452-2dup | ||
| ENST00000245907.11:c.4261-11_4261-2dup MANE Select | ENSP00000245907.4:n.4261-11_4261-2dup | |
| ENST00000245907.10:c.4261-11_4261-2dup | ENSP00000245907.4:n.4261-11_4261-2dup | |
| ENST00000596548.1:c.382-11_382-2dup | ENSP00000469744.1:n.382-11_382-2dup | |
| ENST00000599899.5:n.1220-11_1220-2dup | ||
| ENST00000601008.1:c.242-4083_242-4074dup | ENSP00000471384.1:n.242-4083_242-4074dup | |
| NM_000064.3:c.4261-11_4261-2dup | NP_000055.2:n.4261-11_4261-2dup | |
| NM_000064.4:c.4261-11_4261-2dup MANE Select | NP_000055.2:n.4261-11_4261-2dup |