Canonical Allele Identifier: CA807624096
Gene: SH3PXD2B HGNC NCBI

Linked Data

dbSNP Id: rs1487532723
gnomAD v4: 5-172333377-CCT-C
MyVariant Identifiers: chr5:g.171760382_171760383del (hg19) chr5:g.172333378_172333379del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172333378_172333379del , CM000667.2:g.172333378_172333379del GRCh38
NC_000005.9:g.171760382_171760383del , CM000667.1:g.171760382_171760383del GRCh37
NC_000005.8:g.171692987_171692988del NCBI36
NG_027746.1:g.126145_126146del
NG_027746.2:g.126145_126146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636523.1:c.1229-7999_1229-7998del
ENST00000519643.5:c.1189-7999_1189-7998del ENSP00000430890.1:n.1189-7999_1189-7998del
NM_001308175.1:c.1189-7999_1189-7998del NP_001295104.1:n.1189-7999_1189-7998del
NM_001308175.2:c.1189-7999_1189-7998del NP_001295104.1:n.1189-7999_1189-7998del
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