Canonical Allele Identifier: CA2658512705

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31580651-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580652_31580653del , CM000664.2:g.31580652_31580653del	GRCh38
NC_000002.11:g.31805722_31805723del , CM000664.1:g.31805722_31805723del	GRCh37
NC_000002.10:g.31659226_31659227del	NCBI36
NG_008365.1:g.5319_5320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.248_249del MANE Select	ENSP00000477587.1:p.Leu83ProfsTer?
ENST00000622030.1:c.248_249del	ENSP00000477587.1:p.Leu83ProfsTer?
NM_000348.3:c.248_249del	NP_000339.2:p.Leu83ProfsTer?
XM_011533068.1:c.248_249del	XP_011531370.1:p.Leu83ProfsTer?
XM_011533070.1:c.27-46887_27-46886del	XP_011531372.1:n.27-46887_27-46886del
XM_011533071.1:c.27-46887_27-46886del	XP_011531373.1:n.27-46887_27-46886del
XM_011533072.1:c.27-46887_27-46886del	XP_011531374.1:n.27-46887_27-46886del
XM_011533072.2:c.27-46887_27-46886del	XP_011531374.1:n.27-46887_27-46886del
NM_000348.4:c.248_249del MANE Select	NP_000339.2:p.Leu83ProfsTer?