Canonical Allele Identifier: CA2658498723

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531454-AAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531461_31531464del , CM000664.2:g.31531461_31531464del	GRCh38
NC_000002.11:g.31756531_31756534del , CM000664.1:g.31756531_31756534del	GRCh37
NC_000002.10:g.31610035_31610038del	NCBI36
NG_008365.1:g.54514_54517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.460_463del MANE Select	ENSP00000477587.1:p.Ile154TrpfsTer5
ENST00000622030.1:c.460_463del	ENSP00000477587.1:p.Ile154TrpfsTer5
NM_000348.3:c.460_463del	NP_000339.2:p.Ile154TrpfsTer5
XM_011533069.1:c.238_241del	XP_011531371.1:p.Ile80TrpfsTer5
XM_011533070.1:c.205_208del	XP_011531372.1:p.Ile69TrpfsTer5
XM_011533071.1:c.205_208del	XP_011531373.1:p.Ile69TrpfsTer5
XM_011533072.1:c.205_208del	XP_011531374.1:p.Ile69TrpfsTer5
XM_011533069.2:c.238_241del	XP_011531371.1:p.Ile80TrpfsTer5
XM_011533072.2:c.205_208del	XP_011531374.1:p.Ile69TrpfsTer5
NM_000348.4:c.460_463del MANE Select	NP_000339.2:p.Ile154TrpfsTer5