Canonical Allele Identifier: CA2708987777
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs2111945400

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882279_56882280del , CM000667.2:g.56882279_56882280del GRCh38
NC_000005.9:g.56178106_56178107del , CM000667.1:g.56178106_56178107del GRCh37
NC_000005.8:g.56213863_56213864del NCBI36
NG_031884.1:g.72207_72208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3079_3080del MANE Select ENSP00000382423.3:p.Leu1027ThrfsTer8
ENST00000399503.3:c.3079_3080del ENSP00000382423.3:p.Leu1027ThrfsTer8
NM_005921.1:c.3079_3080del NP_005912.1:p.Leu1027ThrfsTer8
XM_005248519.3:c.2701_2702del XP_005248576.2:p.Leu901ThrfsTer8
XM_011543406.1:c.2824_2825del XP_011541708.1:p.Leu942ThrfsTer8
XM_011543407.1:c.2800_2801del XP_011541709.1:p.Leu934ThrfsTer8
XM_011543408.1:c.3079_3080del XP_011541710.1:p.Leu1027ThrfsTer8
XM_017009484.1:c.2668_2669del XP_016864973.1:p.Leu890ThrfsTer8
XM_017009485.1:c.2590_2591del XP_016864974.1:p.Leu864ThrfsTer8
XR_001742068.2:n.3110_3111del
NM_005921.2:c.3079_3080del MANE Select NP_005912.1:p.Leu1027ThrfsTer8