Canonical Allele Identifier: CA119073602

Gene: MAP3K1

Linked Data

• dbSNP Id: rs542544816
• gnomAD v3: 5-56875519-AACTGTTTT-A
• gnomAD v4: 5-56875519-AACTGTTTT-A
• MyVariant Identifiers: chr5:g.56171347_56171354del (hg19) ; chr5:g.56875520_56875527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875523_56875530del , CM000667.2:g.56875523_56875530del	GRCh38
NC_000005.9:g.56171350_56171357del , CM000667.1:g.56171350_56171357del	GRCh37
NC_000005.8:g.56207107_56207114del	NCBI36
NG_031884.1:g.65451_65458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1965+213_1965+220del MANE Select	ENSP00000382423.3:n.1965+213_1965+220del
ENST00000399503.3:c.1965+213_1965+220del	ENSP00000382423.3:n.1965+213_1965+220del
NM_005921.1:c.1965+213_1965+220del	NP_005912.1:n.1965+213_1965+220del
XM_005248519.3:c.1587+213_1587+220del	XP_005248576.2:n.1587+213_1587+220del
XM_011543406.1:c.1710+213_1710+220del	XP_011541708.1:n.1710+213_1710+220del
XM_011543407.1:c.1686+2518_1686+2525del	XP_011541709.1:n.1686+2518_1686+2525del
XM_011543408.1:c.1965+213_1965+220del	XP_011541710.1:n.1965+213_1965+220del
XM_017009484.1:c.1554+213_1554+220del	XP_016864973.1:n.1554+213_1554+220del
XM_017009485.1:c.1476+213_1476+220del	XP_016864974.1:n.1476+213_1476+220del
XR_001742068.2:n.1996+213_1996+220del
NM_005921.2:c.1965+213_1965+220del MANE Select	NP_005912.1:n.1965+213_1965+220del