Canonical Allele Identifier: CA1139767760

Gene: HSD3B2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[119422243_119422244delinsAA;119422246C>T] , CM000663.2:g.[119422243_119422244delinsAA;119422246C>T]	GRCh38
NC_000001.10:g.[119964866_119964867delinsAA;119964869C>T] , CM000663.1:g.[119964866_119964867delinsAA;119964869C>T]	GRCh37
NC_000001.9:g.[119766389_119766390delinsAA;119766392C>T]	NCBI36
NG_013349.1:g.[12313_12314delinsAA;12316C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.[742_743delinsAA;745C>T] MANE Select	ENSP00000358424.3:p.[Val248Asn;Arg249Ter]
ENST00000369416.3:c.[742_743delinsAA;745C>T]	ENSP00000358424.3:p.[Val248Asn;Arg249Ter]
ENST00000543831.5:c.[742_743delinsAA;745C>T]	ENSP00000445122.1:p.[Val248Asn;Arg249Ter]
NM_000198.3:c.[742_743delinsAA;745C>T]	NP_000189.1:p.[Val248Asn;Arg249Ter]
NM_001166120.1:c.[742_743delinsAA;745C>T]	NP_001159592.1:p.[Val248Asn;Arg249Ter]
NM_000198.4:c.[742_743delinsAA;745C>T] MANE Select	NP_000189.1:p.[Val248Asn;Arg249Ter]
NM_001166120.2:c.[742_743delinsAA;745C>T]	NP_001159592.1:p.[Val248Asn;Arg249Ter]