Canonical Allele Identifier: CA114028

Gene: SH3PXD2B

Linked Data

• ClinVar Variation Id: 189
• ClinVar RCV Id: RCV000000212
• dbSNP Id: rs794728006
• MyVariant Identifiers: chr5:g.171777410del (hg19) ; chr5:g.172350406del (hg38)
• PubMed: PMID:15523657 ; PMID:20137777

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172350408del , CM000667.2:g.172350408del	GRCh38
NC_000005.9:g.171777412del , CM000667.1:g.171777412del	GRCh37
NC_000005.8:g.171710017del	NCBI36
NG_027746.1:g.109118del
NG_027746.2:g.109118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311601.6:c.969del MANE Select	ENSP00000309714.5:p.Arg324GlyfsTer19
ENST00000636523.1:c.1009del
ENST00000311601.5:c.969del	ENSP00000309714.5:p.Arg324GlyfsTer19
ENST00000519643.5:c.969del	ENSP00000430890.1:p.Arg324GlyfsTer19
NM_001017995.2:c.969del	NP_001017995.1:p.Arg324GlyfsTer19
NM_001308175.1:c.969del	NP_001295104.1:p.Arg324GlyfsTer19
XM_017009351.1:c.1053del	XP_016864840.1:p.Arg352GlyfsTer19
NM_001017995.3:c.969del MANE Select	NP_001017995.1:p.Arg324GlyfsTer19
NM_001308175.2:c.969del	NP_001295104.1:p.Arg324GlyfsTer19