Canonical Allele Identifier: CA3272992

Gene: MAP3K1

Linked Data

• dbSNP Id: rs780016149
• ExAC: 5:56177380 ATGTTTTT / A
• gnomAD v2: 5-56177380-ATGTTTTT-A
• MyVariant Identifiers: chr5:g.56177381_56177387del (hg19) ; chr5:g.56881554_56881560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881555_56881561del , CM000667.2:g.56881555_56881561del	GRCh38
NC_000005.9:g.56177382_56177388del , CM000667.1:g.56177382_56177388del	GRCh37
NC_000005.8:g.56213139_56213145del	NCBI36
NG_031884.1:g.71483_71489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2370-15_2370-9del MANE Select	ENSP00000382423.3:n.2370-15_2370-9del
ENST00000399503.3:c.2370-15_2370-9del	ENSP00000382423.3:n.2370-15_2370-9del
NM_005921.1:c.2370-15_2370-9del	NP_005912.1:n.2370-15_2370-9del
XM_005248519.3:c.1992-15_1992-9del	XP_005248576.2:n.1992-15_1992-9del
XM_011543406.1:c.2115-15_2115-9del	XP_011541708.1:n.2115-15_2115-9del
XM_011543407.1:c.2091-15_2091-9del	XP_011541709.1:n.2091-15_2091-9del
XM_011543408.1:c.2370-15_2370-9del	XP_011541710.1:n.2370-15_2370-9del
XM_017009484.1:c.1959-15_1959-9del	XP_016864973.1:n.1959-15_1959-9del
XM_017009485.1:c.1881-15_1881-9del	XP_016864974.1:n.1881-15_1881-9del
XR_001742068.2:n.2401-15_2401-9del
NM_005921.2:c.2370-15_2370-9del MANE Select	NP_005912.1:n.2370-15_2370-9del