Canonical Allele Identifier: CA1192293722
Gene: HSD3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422895_119422901delinsTCTTAAC , CM000663.2:g.119422895_119422901delinsTCTTAAC GRCh38
NC_000001.10:g.119965518_119965524delinsTCTTAAC , CM000663.1:g.119965518_119965524delinsTCTTAAC GRCh37
NC_000001.9:g.119767041_119767047delinsTCTTAAC NCBI36
NG_013349.1:g.12965_12971delinsTCTTAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*275_*281delinsTCTTAAC MANE Select ENSP00000358424.3:n.*275_*281delinsTCTTAAC
ENST00000369416.3:c.*275_*281delinsTCTTAAC ENSP00000358424.3:n.*275_*281delinsTCTTAAC
ENST00000543831.5:c.*275_*281delinsTCTTAAC ENSP00000445122.1:n.*275_*281delinsTCTTAAC
NM_000198.3:c.*275_*281delinsTCTTAAC NP_000189.1:n.*275_*281delinsTCTTAAC
NM_001166120.1:c.*275_*281delinsTCTTAAC NP_001159592.1:n.*275_*281delinsTCTTAAC
NM_000198.4:c.*275_*281delinsTCTTAAC MANE Select NP_000189.1:n.*275_*281delinsTCTTAAC
NM_001166120.2:c.*275_*281delinsTCTTAAC NP_001159592.1:n.*275_*281delinsTCTTAAC