Canonical Allele Identifier: CA1192293668
Gene: HSD3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422835_119422836delinsCA , CM000663.2:g.119422835_119422836delinsCA GRCh38
NC_000001.10:g.119965458_119965459delinsCA , CM000663.1:g.119965458_119965459delinsCA GRCh37
NC_000001.9:g.119766981_119766982delinsCA NCBI36
NG_013349.1:g.12905_12906delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*215_*216delinsCA MANE Select ENSP00000358424.3:n.*215_*216delinsCA
ENST00000369416.3:c.*215_*216delinsCA ENSP00000358424.3:n.*215_*216delinsCA
ENST00000543831.5:c.*215_*216delinsCA ENSP00000445122.1:n.*215_*216delinsCA
NM_000198.3:c.*215_*216delinsCA NP_000189.1:n.*215_*216delinsCA
NM_001166120.1:c.*215_*216delinsCA NP_001159592.1:n.*215_*216delinsCA
NM_000198.4:c.*215_*216delinsCA MANE Select NP_000189.1:n.*215_*216delinsCA
NM_001166120.2:c.*215_*216delinsCA NP_001159592.1:n.*215_*216delinsCA