Canonical Allele Identifier: CA807624097
Gene: SH3PXD2B HGNC NCBI

Linked Data

dbSNP Id: rs1262863152
MyVariant Identifiers: chr5:g.171760391_171760392del (hg19) chr5:g.172333387_172333388del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172333389_172333390del , CM000667.2:g.172333389_172333390del GRCh38
NC_000005.9:g.171760393_171760394del , CM000667.1:g.171760393_171760394del GRCh37
NC_000005.8:g.171692998_171692999del NCBI36
NG_027746.1:g.126136_126137del
NG_027746.2:g.126136_126137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636523.1:c.1229-8008_1229-8007del
ENST00000519643.5:c.1189-8008_1189-8007del ENSP00000430890.1:n.1189-8008_1189-8007del
NM_001308175.1:c.1189-8008_1189-8007del NP_001295104.1:n.1189-8008_1189-8007del
NM_001308175.2:c.1189-8008_1189-8007del NP_001295104.1:n.1189-8008_1189-8007del
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