Canonical Allele Identifier: CA2673909468

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56875425-ATTTTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875433_56875438del , CM000667.2:g.56875433_56875438del	GRCh38
NC_000005.9:g.56171260_56171265del , CM000667.1:g.56171260_56171265del	GRCh37
NC_000005.8:g.56207017_56207022del	NCBI36
NG_031884.1:g.65361_65366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+123_1965+128del MANE Select	ENSP00000382423.3:n.1965+123_1965+128del
ENST00000399503.3:c.1965+123_1965+128del	ENSP00000382423.3:n.1965+123_1965+128del
NM_005921.1:c.1965+123_1965+128del	NP_005912.1:n.1965+123_1965+128del
XM_005248519.3:c.1587+123_1587+128del	XP_005248576.2:n.1587+123_1587+128del
XM_011543406.1:c.1710+123_1710+128del	XP_011541708.1:n.1710+123_1710+128del
XM_011543407.1:c.1686+2428_1686+2433del	XP_011541709.1:n.1686+2428_1686+2433del
XM_011543408.1:c.1965+123_1965+128del	XP_011541710.1:n.1965+123_1965+128del
XM_017009484.1:c.1554+123_1554+128del	XP_016864973.1:n.1554+123_1554+128del
XM_017009485.1:c.1476+123_1476+128del	XP_016864974.1:n.1476+123_1476+128del
XR_001742068.2:n.1996+123_1996+128del
NM_005921.2:c.1965+123_1965+128del MANE Select	NP_005912.1:n.1965+123_1965+128del