Canonical Allele Identifier: CA2586969026

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529437_31529452delinsGT , CM000664.2:g.31529437_31529452delinsGT	GRCh38
NC_000002.11:g.31754507_31754522delinsGT , CM000664.1:g.31754507_31754522delinsGT	GRCh37
NC_000002.10:g.31608011_31608026delinsGT	NCBI36
NG_008365.1:g.56520_56535delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.553_568delinsAC MANE Select	ENSP00000477587.1:p.Leu185ThrfsTer8
ENST00000622030.1:c.553_568delinsAC	ENSP00000477587.1:p.Leu185ThrfsTer8
NM_000348.3:c.553_568delinsAC	NP_000339.2:p.Leu185ThrfsTer8
XM_011533069.1:c.331_346delinsAC	XP_011531371.1:p.Leu111ThrfsTer8
XM_011533070.1:c.298_313delinsAC	XP_011531372.1:p.Leu100ThrfsTer8
XM_011533071.1:c.298_313delinsAC	XP_011531373.1:p.Leu100ThrfsTer8
XM_011533072.1:c.298_313delinsAC	XP_011531374.1:p.Leu100ThrfsTer8
XM_011533069.2:c.331_346delinsAC	XP_011531371.1:p.Leu111ThrfsTer8
XM_011533072.2:c.298_313delinsAC	XP_011531374.1:p.Leu100ThrfsTer8
NM_000348.4:c.553_568delinsAC MANE Select	NP_000339.2:p.Leu185ThrfsTer8