Canonical Allele Identifier: CA1192293720

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422895_119422900delinsTCTTAA , CM000663.2:g.119422895_119422900delinsTCTTAA	GRCh38
NC_000001.10:g.119965518_119965523delinsTCTTAA , CM000663.1:g.119965518_119965523delinsTCTTAA	GRCh37
NC_000001.9:g.119767041_119767046delinsTCTTAA	NCBI36
NG_013349.1:g.12965_12970delinsTCTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.*275_*280delinsTCTTAA MANE Select	ENSP00000358424.3:n.*275_*280delinsTCTTAA
ENST00000369416.3:c.*275_*280delinsTCTTAA	ENSP00000358424.3:n.*275_*280delinsTCTTAA
ENST00000543831.5:c.*275_*280delinsTCTTAA	ENSP00000445122.1:n.*275_*280delinsTCTTAA
NM_000198.3:c.*275_*280delinsTCTTAA	NP_000189.1:n.*275_*280delinsTCTTAA
NM_001166120.1:c.*275_*280delinsTCTTAA	NP_001159592.1:n.*275_*280delinsTCTTAA
NM_000198.4:c.*275_*280delinsTCTTAA MANE Select	NP_000189.1:n.*275_*280delinsTCTTAA
NM_001166120.2:c.*275_*280delinsTCTTAA	NP_001159592.1:n.*275_*280delinsTCTTAA