Linked Data
ClinVar Variation Id:
279874
dbSNP Id:
rs770461067
ExAC:
6:51524286 GA / G
gnomAD v2:
6-51524286-GA-G
gnomAD v3:
6-51659488-GA-G
gnomAD v4:
6-51659488-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659489del , CM000668.2:g.51659489del | GRCh38 |
| NC_000006.11:g.51524287del , CM000668.1:g.51524287del | GRCh37 |
| NC_000006.10:g.51632246del | NCBI36 |
| NG_008753.1:g.433137del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.10637del MANE Select | ENSP00000360158.3:p.Val3546AlafsTer22 | |
| ENST00000371117.7:c.10637del | ENSP00000360158.3:p.Val3546AlafsTer22 | |
| NM_138694.3:c.10637del | NP_619639.3:p.Val3546AlafsTer22 | |
| XM_011514679.1:c.10637del | XP_011512981.1:p.Val3546AlafsTer22 | |
| XM_011514680.1:c.10637del | XP_011512982.1:p.Val3546AlafsTer22 | |
| XM_011514681.1:c.10508del | XP_011512983.1:p.Val3503AlafsTer22 | |
| XM_011514682.1:c.10499del | XP_011512984.1:p.Val3500AlafsTer22 | |
| XM_011514683.1:c.9995del | XP_011512985.1:p.Val3332AlafsTer22 | |
| XM_011514684.1:c.9926del | XP_011512986.1:p.Val3309AlafsTer22 | |
| XM_011514687.1:c.10157-10269del | XP_011512989.1:n.10157-10269del | |
| XM_011514690.1:c.4712del | XP_011512992.1:p.Val1571AlafsTer22 | |
| XM_011514691.1:c.4712del | XP_011512993.1:p.Val1571AlafsTer22 | |
| XR_926870.1:n.535+7116del | ||
| XR_926871.1:n.403+7116del | ||
| XR_926872.1:n.535+7116del | ||
| XM_011514680.3:c.10637del | XP_011512982.1:p.Val3546AlafsTer22 | |
| XM_011514682.3:c.10499del | XP_011512984.1:p.Val3500AlafsTer22 | |
| XM_011514683.3:c.9995del | XP_011512985.1:p.Val3332AlafsTer22 | |
| XM_011514684.3:c.9926del | XP_011512986.1:p.Val3309AlafsTer22 | |
| XM_011514690.3:c.4712del | XP_011512992.1:p.Val1571AlafsTer22 | |
| XM_011514691.3:c.4712del | XP_011512993.1:p.Val1571AlafsTer22 | |
| XM_017010944.2:c.10637del | XP_016866433.1:p.Val3546AlafsTer22 | |
| XM_017010945.2:c.10562del | XP_016866434.1:p.Val3521AlafsTer22 | |
| XM_017010946.2:c.10442del | XP_016866435.1:p.Val3481AlafsTer22 | |
| XM_017010947.2:c.10373del | XP_016866436.1:p.Val3458AlafsTer22 | |
| XM_017010948.2:c.9926del | XP_016866437.1:p.Val3309AlafsTer22 | |
| XM_017010949.2:c.8777del | XP_016866438.1:p.Val2926AlafsTer22 | |
| XR_001743469.1:n.10913del | ||
| XR_001744157.1:n.3145+7116del | ||
| XR_926870.2:n.3145+7116del | ||
| XR_926871.2:n.3013+7116del | ||
| XR_926872.2:n.3145+7116del | ||
| NM_138694.4:c.10637del MANE Select | NP_619639.3:p.Val3546AlafsTer22 |