Canonical Allele Identifier: CA2658498153

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529403-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529404_31529406del , CM000664.2:g.31529404_31529406del	GRCh38
NC_000002.11:g.31754474_31754476del , CM000664.1:g.31754474_31754476del	GRCh37
NC_000002.10:g.31607978_31607980del	NCBI36
NG_008365.1:g.56566_56568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.599_601del MANE Select	ENSP00000477587.1:p.Glu200_Trp201delinsGly
ENST00000622030.1:c.599_601del	ENSP00000477587.1:p.Glu200_Trp201delinsGly
NM_000348.3:c.599_601del	NP_000339.2:p.Glu200_Trp201delinsGly
XM_011533069.1:c.377_379del	XP_011531371.1:p.Glu126_Trp127delinsGly
XM_011533070.1:c.344_346del	XP_011531372.1:p.Glu115_Trp116delinsGly
XM_011533071.1:c.344_346del	XP_011531373.1:p.Glu115_Trp116delinsGly
XM_011533072.1:c.344_346del	XP_011531374.1:p.Glu115_Trp116delinsGly
XM_011533069.2:c.377_379del	XP_011531371.1:p.Glu126_Trp127delinsGly
XM_011533072.2:c.344_346del	XP_011531374.1:p.Glu115_Trp116delinsGly
NM_000348.4:c.599_601del MANE Select	NP_000339.2:p.Glu200_Trp201delinsGly