Canonical Allele Identifier: CA2658497258
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526286_31526292del , CM000664.2:g.31526286_31526292del GRCh38
NC_000002.11:g.31751356_31751362del , CM000664.1:g.31751356_31751362del GRCh37
NC_000002.10:g.31604860_31604866del NCBI36
NG_008365.1:g.59683_59689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.699-27_699-21del MANE Select ENSP00000477587.1:n.699-27_699-21del
ENST00000622030.1:c.699-27_699-21del ENSP00000477587.1:n.699-27_699-21del
NM_000348.3:c.699-27_699-21del NP_000339.2:n.699-27_699-21del
XM_011533069.1:c.477-27_477-21del XP_011531371.1:n.477-27_477-21del
XM_011533070.1:c.444-27_444-21del XP_011531372.1:n.444-27_444-21del
XM_011533071.1:c.444-27_444-21del XP_011531373.1:n.444-27_444-21del
XM_011533072.1:c.444-27_444-21del XP_011531374.1:n.444-27_444-21del
XM_011533069.2:c.477-27_477-21del XP_011531371.1:n.477-27_477-21del
XM_011533072.2:c.444-27_444-21del XP_011531374.1:n.444-27_444-21del
NM_000348.4:c.699-27_699-21del MANE Select NP_000339.2:n.699-27_699-21del