Canonical Allele Identifier: CA2578314244
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56875114_56875116del , CM000667.2:g.56875114_56875116del GRCh38
NC_000005.9:g.56170941_56170943del , CM000667.1:g.56170941_56170943del GRCh37
NC_000005.8:g.56206698_56206700del NCBI36
NG_031884.1:g.65042_65044del

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.1769_1771del MANE Select ENSP00000382423.3:p.Asp590del
ENST00000399503.3:c.1769_1771del ENSP00000382423.3:p.Asp590del
NM_005921.1:c.1769_1771del NP_005912.1:p.Asp590del
XM_005248519.3:c.1391_1393del XP_005248576.2:p.Asp464del
XM_011543406.1:c.1514_1516del XP_011541708.1:p.Asp505del
XM_011543407.1:c.1686+2109_1686+2111del XP_011541709.1:n.1686+2109_1686+2111del
XM_011543408.1:c.1769_1771del XP_011541710.1:p.Asp590del
XM_017009484.1:c.1358_1360del XP_016864973.1:p.Asp453del
XM_017009485.1:c.1280_1282del XP_016864974.1:p.Asp427del
XR_001742068.2:n.1800_1802del
NM_005921.2:c.1769_1771del MANE Select NP_005912.1:p.Asp590del