Canonical Allele Identifier: CA10363393

Gene: MAP3K15

Linked Data

• ClinVar Variation Id: 252502
• ClinVar RCV Id: RCV000238953
• dbSNP Id: rs747607452
• ExAC: X:19380934 ACTCT / A
• gnomAD v2: X-19380934-ACTCT-A
• gnomAD v3: X-19362816-ACTCT-A
• gnomAD v4: X-19362816-ACTCT-A
• MyVariant Identifiers: chrX:g.19380935_19380938del (hg19) ; chrX:g.19362817_19362820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19362823_19362826del , CM000685.2:g.19362823_19362826del	GRCh38
NC_000023.10:g.19380941_19380944del , CM000685.1:g.19380941_19380944del	GRCh37
NC_000023.9:g.19290862_19290865del	NCBI36
NG_016781.1:g.23931_23934del
NG_021184.1:g.157442_157445del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338883.9:c.3597_3600del MANE Select	ENSP00000345629.4:p.Arg1199SerfsTer10
ENST00000338883.8:c.3597_3600del	ENSP00000345629.4:p.Arg1199SerfsTer10
ENST00000359173.7:c.2925_2928del
ENST00000470101.1:n.1015_1018del
ENST00000518578.5:n.3659_3662del
NM_001001671.3:c.3597_3600del	NP_001001671.3:p.Arg1199SerfsTer10
XM_011545507.1:c.3252_3255del	XP_011543809.1:p.Arg1084SerfsTer10
XM_011545508.1:c.3165_3168del	XP_011543810.1:p.Arg1055SerfsTer10
XM_011545509.1:c.2562_2565del	XP_011543811.1:p.Arg854SerfsTer10
XM_011545510.1:c.2271_2274del	XP_011543812.1:p.Arg757SerfsTer10
XM_011545511.1:c.1902_1905del	XP_011543813.1:p.Arg634SerfsTer10
XM_011545507.3:c.3252_3255del	XP_011543809.3:p.Arg1084SerfsTer10
XM_011545508.3:c.3165_3168del	XP_011543810.3:p.Arg1055SerfsTer10
XM_011545510.2:c.2271_2274del	XP_011543812.1:p.Arg757SerfsTer10
XM_011545511.2:c.1902_1905del	XP_011543813.1:p.Arg634SerfsTer10
NM_001001671.4:c.3597_3600del MANE Select	NP_001001671.3:p.Arg1199SerfsTer10