Canonical Allele Identifier: CA886229495
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs1471025253
gnomAD v3: 1-119422835-CA-C
gnomAD v4: 1-119422835-CA-C
MyVariant Identifiers: chr1:g.119965459del (hg19) chr1:g.119422836del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422838del , CM000663.2:g.119422838del GRCh38
NC_000001.10:g.119965461del , CM000663.1:g.119965461del GRCh37
NC_000001.9:g.119766984del NCBI36
NG_013349.1:g.12908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*218del MANE Select ENSP00000358424.3:n.*218del
ENST00000369416.3:c.*218del ENSP00000358424.3:n.*218del
ENST00000543831.5:c.*218del ENSP00000445122.1:n.*218del
NM_000198.3:c.*218del NP_000189.1:n.*218del
NM_001166120.1:c.*218del NP_001159592.1:n.*218del
NM_000198.4:c.*218del MANE Select NP_000189.1:n.*218del
NM_001166120.2:c.*218del NP_001159592.1:n.*218del
Search 100 bp 5'
Search 100 bp 3'