Canonical Allele Identifier: CA2673909975

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881810-G-GCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881810_56881811insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT , CM000667.2:g.56881810_56881811insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	GRCh38
NC_000005.9:g.56177637_56177638insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT , CM000667.1:g.56177637_56177638insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	GRCh37
NC_000005.8:g.56213394_56213395insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	NCBI36
NG_031884.1:g.71738_71739insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2610_2611insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT MANE Select	ENSP00000382423.3:p.Gln870_Leu871insLeuSerValSerSerSerThrHisP...
ENST00000399503.3:c.2610_2611insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	ENSP00000382423.3:p.Gln870_Leu871insLeuSerValSerSerSerThrHisP...
NM_005921.1:c.2610_2611insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	NP_005912.1:p.Gln870_Leu871insLeuSerValSerSerSerThrHisPheThrA...
XM_005248519.3:c.2232_2233insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_005248576.2:p.Gln744_Leu745insLeuSerValSerSerSerThrHisPheT...
XM_011543406.1:c.2355_2356insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_011541708.1:p.Gln785_Leu786insLeuSerValSerSerSerThrHisPheT...
XM_011543407.1:c.2331_2332insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_011541709.1:p.Gln777_Leu778insLeuSerValSerSerSerThrHisPheT...
XM_011543408.1:c.2610_2611insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_011541710.1:p.Gln870_Leu871insLeuSerValSerSerSerThrHisPheT...
XM_017009484.1:c.2199_2200insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_016864973.1:p.Gln733_Leu734insLeuSerValSerSerSerThrHisPheT...
XM_017009485.1:c.2121_2122insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT	XP_016864974.1:p.Gln707_Leu708insLeuSerValSerSerSerThrHisPheT...
XR_001742068.2:n.2641_2642insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT
NM_005921.2:c.2610_2611insCTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGT MANE Select	NP_005912.1:p.Gln870_Leu871insLeuSerValSerSerSerThrHisPheThrA...