Linked Data
ClinVar Variation Id:
1914420
ClinVar RCV Id:
RCV002597539
dbSNP Id:
rs1564036110
gnomAD v2:
9-100437762-A-AAGTCTTACGGTACATGTCATCTTCTAGG
gnomAD v4:
9-97675480-A-AAGTCTTACGGTACATGTCATCTTCTAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675481_97675508dup , CM000671.2:g.97675481_97675508dup | GRCh38 |
| NC_000009.11:g.100437763_100437790dup , CM000671.1:g.100437763_100437790dup | GRCh37 |
| NC_000009.10:g.99477584_99477611dup | NCBI36 |
| NG_011642.1:g.26902_26929dup , LRG_471:g.26902_26929dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.753_780dup MANE Select | ENSP00000364270.5:p.Cys261ProfsTer4 | |
| ENST00000375128.4:c.753_780dup | ENSP00000364270.4:p.Cys261ProfsTer4 | |
| ENST00000462523.5:c.*189_*216dup | ENSP00000433006.1:n.*189_*216dup | |
| ENST00000485042.1:n.265_292dup | ||
| NM_000380.3:c.753_780dup , LRG_471t1:c.753_780dup | NP_000371.1:p.Cys261ProfsTer4 | |
| NR_027302.1:n.1101_1128dup | ||
| XM_006717278.1:c.753_772+8dup | ||
| XM_011518988.1:c.753_772+8dup | ||
| NM_001354975.1:c.627_654dup | NP_001341904.1:p.Cys219ProfsTer4 | |
| NR_149091.1:n.598_625dup | ||
| NR_149092.1:n.764_791dup | ||
| NR_149093.1:n.1290_1317dup | ||
| NR_149094.1:n.1184_1211dup | ||
| NM_000380.4:c.753_780dup MANE Select | NP_000371.1:p.Cys261ProfsTer4 | |
| NM_001354975.2:c.627_654dup | NP_001341904.1:p.Cys219ProfsTer4 | |
| NR_027302.2:n.1032_1059dup | ||
| NR_149091.2:n.529_556dup | ||
| NR_149092.2:n.695_722dup | ||
| NR_149093.2:n.1221_1248dup | ||
| NR_149094.2:n.1115_1142dup |