Linked Data
dbSNP Id:
rs1454563127
gnomAD v2:
4-122776057-TATC-T
gnomAD v3:
4-121854902-TATC-T
gnomAD v4:
4-121854902-TATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854905_121854907del , CM000666.2:g.121854905_121854907del | GRCh38 |
| NC_000004.11:g.122776060_122776062del , CM000666.1:g.122776060_122776062del | GRCh37 |
| NC_000004.10:g.122995510_122995512del | NCBI36 |
| NG_009111.1:g.20583_20585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.602-85_602-83del MANE Select | ENSP00000264499.4:n.602-85_602-83del | |
| ENST00000264499.8:c.602-85_602-83del | ENSP00000264499.4:n.602-85_602-83del | |
| ENST00000506636.1:c.602-85_602-83del | ENSP00000423626.1:n.602-85_602-83del | |
| NM_018190.3:c.602-85_602-83del | NP_060660.2:n.602-85_602-83del | |
| NM_176824.2:c.602-85_602-83del | NP_789794.1:n.602-85_602-83del | |
| XM_005263106.2:c.602-82_602-80del | XP_005263163.1:n.602-82_602-80del | |
| XM_011532079.1:c.647-82_647-80del | XP_011530381.1:n.647-82_647-80del | |
| XM_011532080.1:c.647-85_647-83del | XP_011530382.1:n.647-85_647-83del | |
| XM_011532081.1:c.647-82_647-80del | XP_011530383.1:n.647-82_647-80del | |
| XM_005263106.4:c.602-82_602-80del | XP_005263163.1:n.602-82_602-80del | |
| XM_011532079.3:c.647-82_647-80del | XP_011530381.1:n.647-82_647-80del | |
| XM_011532080.3:c.647-85_647-83del | XP_011530382.1:n.647-85_647-83del | |
| XM_011532081.3:c.647-82_647-80del | XP_011530383.1:n.647-82_647-80del | |
| XM_017008357.2:c.602-85_602-83del | XP_016863846.1:n.602-85_602-83del | |
| XM_017008358.2:c.602-82_602-80del | XP_016863847.1:n.602-82_602-80del | |
| NM_176824.3:c.602-85_602-83del MANE Select | NP_789794.1:n.602-85_602-83del | |
| NM_018190.4:c.602-85_602-83del | NP_060660.2:n.602-85_602-83del |