Canonical Allele Identifier: CA1143643897
Gene: HSD3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422896_119422903delinsCTTAACTT , CM000663.2:g.119422896_119422903delinsCTTAACTT GRCh38
NC_000001.10:g.119965519_119965526delinsCTTAACTT , CM000663.1:g.119965519_119965526delinsCTTAACTT GRCh37
NC_000001.9:g.119767042_119767049delinsCTTAACTT NCBI36
NG_013349.1:g.12966_12973delinsCTTAACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*276_*283delinsCTTAACTT MANE Select ENSP00000358424.3:n.*276_*283delinsCTTAACTT
ENST00000369416.3:c.*276_*283delinsCTTAACTT ENSP00000358424.3:n.*276_*283delinsCTTAACTT
ENST00000543831.5:c.*276_*283delinsCTTAACTT ENSP00000445122.1:n.*276_*283delinsCTTAACTT
NM_000198.3:c.*276_*283delinsCTTAACTT NP_000189.1:n.*276_*283delinsCTTAACTT
NM_001166120.1:c.*276_*283delinsCTTAACTT NP_001159592.1:n.*276_*283delinsCTTAACTT
NM_000198.4:c.*276_*283delinsCTTAACTT MANE Select NP_000189.1:n.*276_*283delinsCTTAACTT
NM_001166120.2:c.*276_*283delinsCTTAACTT NP_001159592.1:n.*276_*283delinsCTTAACTT