Linked Data
ClinVar Variation Id:
557338
ClinVar RCV Id:
RCV000673468
dbSNP Id:
rs1554183763
gnomAD v4:
6-51659931-GA-G
MyVariant Identifiers:
chr6:g.51659932del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659934del , CM000668.2:g.51659934del | GRCh38 |
| NC_000006.11:g.51524732del , CM000668.1:g.51524732del | GRCh37 |
| NC_000006.10:g.51632691del | NCBI36 |
| NG_008753.1:g.432694del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10194del MANE Select | ENSP00000360158.3:p.Leu3399Ter | |
| ENST00000371117.7:c.10194del | ENSP00000360158.3:p.Leu3399Ter | |
| NM_138694.3:c.10194del | NP_619639.3:p.Leu3399Ter | |
| XM_011514679.1:c.10194del | XP_011512981.1:p.Leu3399Ter | |
| XM_011514680.1:c.10194del | XP_011512982.1:p.Leu3399Ter | |
| XM_011514681.1:c.10065del | XP_011512983.1:p.Leu3356Ter | |
| XM_011514682.1:c.10056del | XP_011512984.1:p.Leu3353Ter | |
| XM_011514683.1:c.9552del | XP_011512985.1:p.Leu3185Ter | |
| XM_011514684.1:c.9483del | XP_011512986.1:p.Leu3162Ter | |
| XM_011514687.1:c.10157-10712del | XP_011512989.1:n.10157-10712del | |
| XM_011514690.1:c.4269del | XP_011512992.1:p.Leu1424Ter | |
| XM_011514691.1:c.4269del | XP_011512993.1:p.Leu1424Ter | |
| XR_926870.1:n.535+7561del | ||
| XR_926871.1:n.403+7561del | ||
| XR_926872.1:n.535+7561del | ||
| XM_011514680.3:c.10194del | XP_011512982.1:p.Leu3399Ter | |
| XM_011514682.3:c.10056del | XP_011512984.1:p.Leu3353Ter | |
| XM_011514683.3:c.9552del | XP_011512985.1:p.Leu3185Ter | |
| XM_011514684.3:c.9483del | XP_011512986.1:p.Leu3162Ter | |
| XM_011514690.3:c.4269del | XP_011512992.1:p.Leu1424Ter | |
| XM_011514691.3:c.4269del | XP_011512993.1:p.Leu1424Ter | |
| XM_017010944.2:c.10194del | XP_016866433.1:p.Leu3399Ter | |
| XM_017010945.2:c.10119del | XP_016866434.1:p.Leu3374Ter | |
| XM_017010946.2:c.9999del | XP_016866435.1:p.Leu3334Ter | |
| XM_017010947.2:c.9930del | XP_016866436.1:p.Leu3311Ter | |
| XM_017010948.2:c.9483del | XP_016866437.1:p.Leu3162Ter | |
| XM_017010949.2:c.8334del | XP_016866438.1:p.Leu2779Ter | |
| XR_001743469.1:n.10470del | ||
| XR_001744157.1:n.3145+7561del | ||
| XR_926870.2:n.3145+7561del | ||
| XR_926871.2:n.3013+7561del | ||
| XR_926872.2:n.3145+7561del | ||
| NM_138694.4:c.10194del MANE Select | NP_619639.3:p.Leu3399Ter |