Canonical Allele Identifier: CA2673909986

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882366-AACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882370_56882373del , CM000667.2:g.56882370_56882373del	GRCh38
NC_000005.9:g.56178197_56178200del , CM000667.1:g.56178197_56178200del	GRCh37
NC_000005.8:g.56213954_56213957del	NCBI36
NG_031884.1:g.72298_72301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3170_3173del MANE Select	ENSP00000382423.3:p.Ile1057ThrfsTer24
ENST00000399503.3:c.3170_3173del	ENSP00000382423.3:p.Ile1057ThrfsTer24
NM_005921.1:c.3170_3173del	NP_005912.1:p.Ile1057ThrfsTer24
XM_005248519.3:c.2792_2795del	XP_005248576.2:p.Ile931ThrfsTer24
XM_011543406.1:c.2915_2918del	XP_011541708.1:p.Ile972ThrfsTer24
XM_011543407.1:c.2891_2894del	XP_011541709.1:p.Ile964ThrfsTer24
XM_011543408.1:c.3170_3173del	XP_011541710.1:p.Ile1057ThrfsTer24
XM_017009484.1:c.2759_2762del	XP_016864973.1:p.Ile920ThrfsTer24
XM_017009485.1:c.2681_2684del	XP_016864974.1:p.Ile894ThrfsTer24
XR_001742068.2:n.3201_3204del
NM_005921.2:c.3170_3173del MANE Select	NP_005912.1:p.Ile1057ThrfsTer24