Linked Data
dbSNP Id:
rs1562842043
gnomAD v3:
7-100633127-G-GGGACACGA
gnomAD v4:
7-100633127-G-GGGACACGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633132_100633139dup , CM000669.2:g.100633132_100633139dup | GRCh38 |
| NC_000007.13:g.100230755_100230762dup , CM000669.1:g.100230755_100230762dup | GRCh37 |
| NC_000007.12:g.100068691_100068698dup | NCBI36 |
| NG_007989.1:g.13416_13423dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.727-12_727-5dup MANE Select | ENSP00000223051.3:n.727-12_727-5dup | |
| ENST00000223051.7:c.727-12_727-5dup | ENSP00000223051.3:n.727-12_727-5dup | |
| ENST00000431692.5:c.727-12_727-5dup | ENSP00000413905.1:n.727-12_727-5dup | |
| ENST00000462107.1:c.727-12_727-5dup | ENSP00000420525.1:n.727-12_727-5dup | |
| ENST00000465294.5:n.732-12_732-5dup | ||
| ENST00000473374.5:n.177-12_177-5dup | ||
| ENST00000473571.1:n.181-12_181-5dup | ||
| ENST00000475011.1:n.256-12_256-5dup | ||
| ENST00000476304.5:n.348-12_348-5dup | ||
| NM_001206855.1:c.214-12_214-5dup | NP_001193784.1:n.214-12_214-5dup | |
| NM_003227.3:c.727-12_727-5dup | NP_003218.2:n.727-12_727-5dup | |
| XM_005250553.3:c.727-12_727-5dup | XP_005250610.1:n.727-12_727-5dup | |
| XM_005250554.3:c.727-12_727-5dup | XP_005250611.1:n.727-12_727-5dup | |
| NM_001206855.2:c.214-12_214-5dup | NP_001193784.1:n.214-12_214-5dup | |
| XM_005250553.4:c.727-12_727-5dup | XP_005250610.1:n.727-12_727-5dup | |
| XM_017012573.1:c.727-12_727-5dup | XP_016868062.1:n.727-12_727-5dup | |
| NM_003227.4:c.727-12_727-5dup MANE Select | NP_003218.2:n.727-12_727-5dup | |
| NM_001206855.3:c.214-12_214-5dup | NP_001193784.1:n.214-12_214-5dup |