Canonical Allele Identifier: CA1242199325

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533658_31533673delinsCAGATAGTAGCCTTGA , CM000664.2:g.31533658_31533673delinsCAGATAGTAGCCTTGA	GRCh38
NC_000002.11:g.31758728_31758743delinsCAGATAGTAGCCTTGA , CM000664.1:g.31758728_31758743delinsCAGATAGTAGCCTTGA	GRCh37
NC_000002.10:g.31612232_31612247delinsCAGATAGTAGCCTTGA	NCBI36
NG_008365.1:g.52299_52314delinsTCAAGGCTACTATCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.375_390delinsTCAAGGCTACTATCTG MANE Select	ENSP00000477587.1:p.Leu125=
ENST00000622030.1:c.375_390delinsTCAAGGCTACTATCTG	ENSP00000477587.1:p.Leu125=
NM_000348.3:c.375_390delinsTCAAGGCTACTATCTG	NP_000339.2:p.Leu125=
XM_011533068.1:c.375_390delinsTCAAGGCTACTATCTG	XP_011531370.1:p.Leu125=
XM_011533069.1:c.153_168delinsTCAAGGCTACTATCTG	XP_011531371.1:p.Leu51=
XM_011533070.1:c.120_135delinsTCAAGGCTACTATCTG	XP_011531372.1:p.Leu40=
XM_011533071.1:c.120_135delinsTCAAGGCTACTATCTG	XP_011531373.1:p.Leu40=
XM_011533072.1:c.120_135delinsTCAAGGCTACTATCTG	XP_011531374.1:p.Leu40=
XM_011533069.2:c.153_168delinsTCAAGGCTACTATCTG	XP_011531371.1:p.Leu51=
XM_011533072.2:c.120_135delinsTCAAGGCTACTATCTG	XP_011531374.1:p.Leu40=
NM_000348.4:c.375_390delinsTCAAGGCTACTATCTG MANE Select	NP_000339.2:p.Leu125=