Canonical Allele Identifier: CA559802751

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1351975927
• gnomAD v2: 5-56155746-AGTTAAT-A
• gnomAD v3: 5-56859919-AGTTAAT-A
• gnomAD v4: 5-56859919-AGTTAAT-A
• MyVariant Identifiers: chr5:g.56155747_56155752del (hg19) ; chr5:g.56859920_56859925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859924_56859929del , CM000667.2:g.56859924_56859929del	GRCh38
NC_000005.9:g.56155751_56155756del , CM000667.1:g.56155751_56155756del	GRCh37
NC_000005.8:g.56191508_56191513del	NCBI36
NG_031884.1:g.49852_49857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.834+9_834+14del MANE Select	ENSP00000382423.3:n.834+9_834+14del
ENST00000399503.3:c.834+9_834+14del	ENSP00000382423.3:n.834+9_834+14del
NM_005921.1:c.834+9_834+14del	NP_005912.1:n.834+9_834+14del
XM_005248519.3:c.456+9_456+14del	XP_005248576.2:n.456+9_456+14del
XM_011543406.1:c.579+9_579+14del	XP_011541708.1:n.579+9_579+14del
XM_011543407.1:c.834+9_834+14del	XP_011541709.1:n.834+9_834+14del
XM_011543408.1:c.834+9_834+14del	XP_011541710.1:n.834+9_834+14del
XM_017009484.1:c.423+9_423+14del	XP_016864973.1:n.423+9_423+14del
XM_017009485.1:c.345+9_345+14del	XP_016864974.1:n.345+9_345+14del
XR_001742068.2:n.865+9_865+14del
NM_005921.2:c.834+9_834+14del MANE Select	NP_005912.1:n.834+9_834+14del