Canonical Allele Identifier: CA1141581018
Gene: HSD3B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422243_119422244delinsGT , CM000663.2:g.119422243_119422244delinsGT GRCh38
NC_000001.10:g.119964866_119964867delinsGT , CM000663.1:g.119964866_119964867delinsGT GRCh37
NC_000001.9:g.119766389_119766390delinsGT NCBI36
NG_013349.1:g.12313_12314delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.742_743delinsGT MANE Select ENSP00000358424.3:p.Val248=
ENST00000369416.3:c.742_743delinsGT ENSP00000358424.3:p.Val248=
ENST00000543831.5:c.742_743delinsGT ENSP00000445122.1:p.Val248=
NM_000198.3:c.742_743delinsGT NP_000189.1:p.Val248=
NM_001166120.1:c.742_743delinsGT NP_001159592.1:p.Val248=
NM_000198.4:c.742_743delinsGT MANE Select NP_000189.1:p.Val248=
NM_001166120.2:c.742_743delinsGT NP_001159592.1:p.Val248=
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