Canonical Allele Identifier: CA3273120

Gene: MAP3K1

Linked Data

• dbSNP Id: rs762307758
• ExAC: 5:56178137 AAGACTC / A
• gnomAD v2: 5-56178137-AAGACTC-A
• gnomAD v4: 5-56882310-AAGACTC-A
• MyVariant Identifiers: chr5:g.56178138_56178143del (hg19) ; chr5:g.56882311_56882316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882314_56882319del , CM000667.2:g.56882314_56882319del	GRCh38
NC_000005.9:g.56178141_56178146del , CM000667.1:g.56178141_56178146del	GRCh37
NC_000005.8:g.56213898_56213903del	NCBI36
NG_031884.1:g.72242_72247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3114_3119del MANE Select	ENSP00000382423.3:p.Ser1039_Asp1040del
ENST00000399503.3:c.3114_3119del	ENSP00000382423.3:p.Ser1039_Asp1040del
NM_005921.1:c.3114_3119del	NP_005912.1:p.Ser1039_Asp1040del
XM_005248519.3:c.2736_2741del	XP_005248576.2:p.Ser913_Asp914del
XM_011543406.1:c.2859_2864del	XP_011541708.1:p.Ser954_Asp955del
XM_011543407.1:c.2835_2840del	XP_011541709.1:p.Ser946_Asp947del
XM_011543408.1:c.3114_3119del	XP_011541710.1:p.Ser1039_Asp1040del
XM_017009484.1:c.2703_2708del	XP_016864973.1:p.Ser902_Asp903del
XM_017009485.1:c.2625_2630del	XP_016864974.1:p.Ser876_Asp877del
XR_001742068.2:n.3145_3150del
NM_005921.2:c.3114_3119del MANE Select	NP_005912.1:p.Ser1039_Asp1040del