Linked Data
dbSNP Id:
rs1776278938
gnomAD v3:
6-32040826-T-TGCCGCTGAACGCCTCCCCACC
gnomAD v4:
6-32040826-T-TGCCGCTGAACGCCTCCCCACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040827_32040847dup , CM000668.2:g.32040827_32040847dup | GRCh38 |
| NC_000006.11:g.32008604_32008624dup , CM000668.1:g.32008604_32008624dup | GRCh37 |
| NC_000006.10:g.32116583_32116603dup | NCBI36 |
| NG_007941.2:g.7520_7540dup | |
| NG_008337.2:g.73528_73548dup | |
| NG_007941.3:g.7523_7543dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.1223-42_1223-22dup MANE Select | ENSP00000496625.1:n.1223-42_1223-22dup | |
| ENST00000418967.6:c.1223-42_1223-22dup | ENSP00000408860.2:n.1223-42_1223-22dup | |
| ENST00000435122.3:c.1133-42_1133-22dup | ENSP00000415043.2:n.1133-42_1133-22dup | |
| ENST00000479074.5:n.1364-42_1364-22dup | ||
| ENST00000479730.5:n.1339-42_1339-22dup | ||
| ENST00000483041.5:n.1392-42_1392-22dup | ||
| ENST00000486063.5:n.1202-42_1202-22dup | ||
| NM_000500.7:c.1223-42_1223-22dup | NP_000491.4:n.1223-42_1223-22dup | |
| NM_001128590.3:c.1133-42_1133-22dup | NP_001122062.3:n.1133-42_1133-22dup | |
| XM_011514314.1:c.818-42_818-22dup | XP_011512616.1:n.818-42_818-22dup | |
| NM_000500.9:c.1223-42_1223-22dup MANE Select | NP_000491.4:n.1223-42_1223-22dup | |
| NM_001368143.1:c.818-42_818-22dup | NP_001355072.1:n.818-42_818-22dup | |
| NM_001368144.1:c.818-42_818-22dup | NP_001355073.1:n.818-42_818-22dup | |
| NM_001128590.4:c.1133-42_1133-22dup | NP_001122062.3:n.1133-42_1133-22dup | |
| NM_001368143.2:c.818-42_818-22dup | NP_001355072.1:n.818-42_818-22dup | |
| NM_001368144.2:c.818-42_818-22dup | NP_001355073.1:n.818-42_818-22dup |