Linked Data
ClinVar Variation Id:
731812
dbSNP Id:
rs1374480151
gnomAD v2:
6-51524771-TAAAAG-T
gnomAD v3:
6-51659973-TAAAAG-T
gnomAD v4:
6-51659973-TAAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659981_51659985del , CM000668.2:g.51659981_51659985del | GRCh38 |
| NC_000006.11:g.51524779_51524783del , CM000668.1:g.51524779_51524783del | GRCh37 |
| NC_000006.10:g.51632738_51632742del | NCBI36 |
| NG_008753.1:g.432648_432652del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10157-9_10157-5del MANE Select | ENSP00000360158.3:n.10157-9_10157-5del | |
| ENST00000371117.7:c.10157-9_10157-5del | ENSP00000360158.3:n.10157-9_10157-5del | |
| NM_138694.3:c.10157-9_10157-5del | NP_619639.3:n.10157-9_10157-5del | |
| XM_011514679.1:c.10157-9_10157-5del | XP_011512981.1:n.10157-9_10157-5del | |
| XM_011514680.1:c.10157-9_10157-5del | XP_011512982.1:n.10157-9_10157-5del | |
| XM_011514681.1:c.10028-9_10028-5del | XP_011512983.1:n.10028-9_10028-5del | |
| XM_011514682.1:c.10019-9_10019-5del | XP_011512984.1:n.10019-9_10019-5del | |
| XM_011514683.1:c.9515-9_9515-5del | XP_011512985.1:n.9515-9_9515-5del | |
| XM_011514684.1:c.9446-9_9446-5del | XP_011512986.1:n.9446-9_9446-5del | |
| XM_011514687.1:c.10157-10758_10157-10754del | XP_011512989.1:n.10157-10758_10157-10754del | |
| XM_011514690.1:c.4232-9_4232-5del | XP_011512992.1:n.4232-9_4232-5del | |
| XM_011514691.1:c.4232-9_4232-5del | XP_011512993.1:n.4232-9_4232-5del | |
| XR_926870.1:n.535+7608_535+7612del | ||
| XR_926871.1:n.403+7608_403+7612del | ||
| XR_926872.1:n.535+7608_535+7612del | ||
| XM_011514680.3:c.10157-9_10157-5del | XP_011512982.1:n.10157-9_10157-5del | |
| XM_011514682.3:c.10019-9_10019-5del | XP_011512984.1:n.10019-9_10019-5del | |
| XM_011514683.3:c.9515-9_9515-5del | XP_011512985.1:n.9515-9_9515-5del | |
| XM_011514684.3:c.9446-9_9446-5del | XP_011512986.1:n.9446-9_9446-5del | |
| XM_011514690.3:c.4232-9_4232-5del | XP_011512992.1:n.4232-9_4232-5del | |
| XM_011514691.3:c.4232-9_4232-5del | XP_011512993.1:n.4232-9_4232-5del | |
| XM_017010944.2:c.10157-9_10157-5del | XP_016866433.1:n.10157-9_10157-5del | |
| XM_017010945.2:c.10082-9_10082-5del | XP_016866434.1:n.10082-9_10082-5del | |
| XM_017010946.2:c.9962-9_9962-5del | XP_016866435.1:n.9962-9_9962-5del | |
| XM_017010947.2:c.9893-9_9893-5del | XP_016866436.1:n.9893-9_9893-5del | |
| XM_017010948.2:c.9446-9_9446-5del | XP_016866437.1:n.9446-9_9446-5del | |
| XM_017010949.2:c.8297-9_8297-5del | XP_016866438.1:n.8297-9_8297-5del | |
| XR_001743469.1:n.10433-9_10433-5del | ||
| XR_001744157.1:n.3145+7608_3145+7612del | ||
| XR_926870.2:n.3145+7608_3145+7612del | ||
| XR_926871.2:n.3013+7608_3013+7612del | ||
| XR_926872.2:n.3145+7608_3145+7612del | ||
| NM_138694.4:c.10157-9_10157-5del MANE Select | NP_619639.3:n.10157-9_10157-5del |