Canonical Allele Identifier: CA1192293858

Gene: HSD3B2

Linked Data

• dbSNP Id: rs1651939821

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119423013del , CM000663.2:g.119423013del	GRCh38
NC_000001.10:g.119965636del , CM000663.1:g.119965636del	GRCh37
NC_000001.9:g.119767159del	NCBI36
NG_013349.1:g.13083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.*393del MANE Select	ENSP00000358424.3:n.*393del
ENST00000369416.3:c.*393del	ENSP00000358424.3:n.*393del
ENST00000543831.5:c.*393del	ENSP00000445122.1:n.*393del
NM_000198.3:c.*393del	NP_000189.1:n.*393del
NM_001166120.1:c.*393del	NP_001159592.1:n.*393del
NM_000198.4:c.*393del MANE Select	NP_000189.1:n.*393del
NM_001166120.2:c.*393del	NP_001159592.1:n.*393del