Canonical Allele Identifier: CA2740260369
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526271_31526275del , CM000664.2:g.31526271_31526275del GRCh38
NC_000002.11:g.31751341_31751345del , CM000664.1:g.31751341_31751345del GRCh37
NC_000002.10:g.31604845_31604849del NCBI36
NG_008365.1:g.59701_59705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.699-9_699-5del MANE Select ENSP00000477587.1:n.699-9_699-5del
ENST00000622030.1:c.699-9_699-5del ENSP00000477587.1:n.699-9_699-5del
NM_000348.3:c.699-9_699-5del NP_000339.2:n.699-9_699-5del
XM_011533069.1:c.477-9_477-5del XP_011531371.1:n.477-9_477-5del
XM_011533070.1:c.444-9_444-5del XP_011531372.1:n.444-9_444-5del
XM_011533071.1:c.444-9_444-5del XP_011531373.1:n.444-9_444-5del
XM_011533072.1:c.444-9_444-5del XP_011531374.1:n.444-9_444-5del
XM_011533069.2:c.477-9_477-5del XP_011531371.1:n.477-9_477-5del
XM_011533072.2:c.444-9_444-5del XP_011531374.1:n.444-9_444-5del
NM_000348.4:c.699-9_699-5del MANE Select NP_000339.2:n.699-9_699-5del