Canonical Allele Identifier: CA2695204486
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859904_56859905delinsCT , CM000667.2:g.56859904_56859905delinsCT GRCh38
NC_000005.9:g.56155731_56155732delinsCT , CM000667.1:g.56155731_56155732delinsCT GRCh37
NC_000005.8:g.56191488_56191489delinsCT NCBI36
NG_031884.1:g.49832_49833delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.823_824delinsCT MANE Select ENSP00000382423.3:p.Ser275Leu
ENST00000399503.3:c.823_824delinsCT ENSP00000382423.3:p.Ser275Leu
NM_005921.1:c.823_824delinsCT NP_005912.1:p.Ser275Leu
XM_005248519.3:c.445_446delinsCT XP_005248576.2:p.Ser149Leu
XM_011543406.1:c.568_569delinsCT XP_011541708.1:p.Ser190Leu
XM_011543407.1:c.823_824delinsCT XP_011541709.1:p.Ser275Leu
XM_011543408.1:c.823_824delinsCT XP_011541710.1:p.Ser275Leu
XM_017009484.1:c.412_413delinsCT XP_016864973.1:p.Ser138Leu
XM_017009485.1:c.334_335delinsCT XP_016864974.1:p.Ser112Leu
XR_001742068.2:n.854_855delinsCT
NM_005921.2:c.823_824delinsCT MANE Select NP_005912.1:p.Ser275Leu