Canonical Allele Identifier: CA2502480315
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881866_56881867del , CM000667.2:g.56881866_56881867del GRCh38
NC_000005.9:g.56177693_56177694del , CM000667.1:g.56177693_56177694del GRCh37
NC_000005.8:g.56213450_56213451del NCBI36
NG_031884.1:g.71794_71795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2666_2667del MANE Select ENSP00000382423.3:p.Val889AlafsTer14
ENST00000399503.3:c.2666_2667del ENSP00000382423.3:p.Val889AlafsTer14
NM_005921.1:c.2666_2667del NP_005912.1:p.Val889AlafsTer14
XM_005248519.3:c.2288_2289del XP_005248576.2:p.Val763AlafsTer14
XM_011543406.1:c.2411_2412del XP_011541708.1:p.Val804AlafsTer14
XM_011543407.1:c.2387_2388del XP_011541709.1:p.Val796AlafsTer14
XM_011543408.1:c.2666_2667del XP_011541710.1:p.Val889AlafsTer14
XM_017009484.1:c.2255_2256del XP_016864973.1:p.Val752AlafsTer14
XM_017009485.1:c.2177_2178del XP_016864974.1:p.Val726AlafsTer14
XR_001742068.2:n.2697_2698del
NM_005921.2:c.2666_2667del MANE Select NP_005912.1:p.Val889AlafsTer14