Canonical Allele Identifier: CA10363392

Gene: MAP3K15

Linked Data

• ClinVar Variation Id: 3048237
• ClinVar RCV Id: RCV003952029
• dbSNP Id: rs747607452
• ExAC: X:19380934 ACT / A
• gnomAD v2: X-19380934-ACT-A
• gnomAD v3: X-19362816-ACT-A
• gnomAD v4: X-19362816-ACT-A
• MyVariant Identifiers: chrX:g.19380937_19380938del (hg19) ; chrX:g.19380935_19380936del (hg19) ; chrX:g.19362818_19362819del (hg38) ; chrX:g.19362817_19362818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19362825_19362826del , CM000685.2:g.19362825_19362826del	GRCh38
NC_000023.10:g.19380943_19380944del , CM000685.1:g.19380943_19380944del	GRCh37
NC_000023.9:g.19290864_19290865del	NCBI36
NG_016781.1:g.23933_23934del
NG_021184.1:g.157444_157445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338883.9:c.3599_3600del MANE Select	ENSP00000345629.4:p.Glu1200ValfsTer?
ENST00000338883.8:c.3599_3600del	ENSP00000345629.4:p.Glu1200ValfsTer?
ENST00000359173.7:c.2927_2928del
ENST00000470101.1:n.1017_1018del
ENST00000518578.5:n.3661_3662del
NM_001001671.3:c.3599_3600del	NP_001001671.3:p.Glu1200ValfsTer?
XM_011545507.1:c.3254_3255del	XP_011543809.1:p.Glu1085ValfsTer?
XM_011545508.1:c.3167_3168del	XP_011543810.1:p.Glu1056ValfsTer?
XM_011545509.1:c.2564_2565del	XP_011543811.1:p.Glu855ValfsTer?
XM_011545510.1:c.2273_2274del	XP_011543812.1:p.Glu758ValfsTer?
XM_011545511.1:c.1904_1905del	XP_011543813.1:p.Glu635ValfsTer?
XM_011545507.3:c.3254_3255del	XP_011543809.3:p.Glu1085ValfsTer?
XM_011545508.3:c.3167_3168del	XP_011543810.3:p.Glu1056ValfsTer?
XM_011545510.2:c.2273_2274del	XP_011543812.1:p.Glu758ValfsTer?
XM_011545511.2:c.1904_1905del	XP_011543813.1:p.Glu635ValfsTer?
NM_001001671.4:c.3599_3600del MANE Select	NP_001001671.3:p.Glu1200ValfsTer?