Canonical Allele Identifier: CA525726966
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs1207653249
gnomAD v2: 1-119965520-TTAAC-T
gnomAD v3: 1-119422897-TTAAC-T
gnomAD v4: 1-119422897-TTAAC-T
MyVariant Identifiers: chr1:g.119965521_119965524del (hg19) chr1:g.119422898_119422901del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422899_119422902del , CM000663.2:g.119422899_119422902del GRCh38
NC_000001.10:g.119965522_119965525del , CM000663.1:g.119965522_119965525del GRCh37
NC_000001.9:g.119767045_119767048del NCBI36
NG_013349.1:g.12969_12972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*279_*282del MANE Select ENSP00000358424.3:n.*279_*282del
ENST00000369416.3:c.*279_*282del ENSP00000358424.3:n.*279_*282del
ENST00000543831.5:c.*279_*282del ENSP00000445122.1:n.*279_*282del
NM_000198.3:c.*279_*282del NP_000189.1:n.*279_*282del
NM_001166120.1:c.*279_*282del NP_001159592.1:n.*279_*282del
NM_000198.4:c.*279_*282del MANE Select NP_000189.1:n.*279_*282del
NM_001166120.2:c.*279_*282del NP_001159592.1:n.*279_*282del
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