Canonical Allele Identifier: CA1242215016
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1666776077

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31568230_31568237del , CM000664.2:g.31568230_31568237del GRCh38
NC_000002.11:g.31793300_31793307del , CM000664.1:g.31793300_31793307del GRCh37
NC_000002.10:g.31646804_31646811del NCBI36
NG_008365.1:g.17735_17742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+12383_281+12390del MANE Select ENSP00000477587.1:n.281+12383_281+12390del
ENST00000622030.1:c.281+12383_281+12390del ENSP00000477587.1:n.281+12383_281+12390del
NM_000348.3:c.281+12383_281+12390del NP_000339.2:n.281+12383_281+12390del
XM_011533068.1:c.281+12383_281+12390del XP_011531370.1:n.281+12383_281+12390del
XM_011533070.1:c.27-34471_27-34464del XP_011531372.1:n.27-34471_27-34464del
XM_011533071.1:c.27-34471_27-34464del XP_011531373.1:n.27-34471_27-34464del
XM_011533072.1:c.27-34471_27-34464del XP_011531374.1:n.27-34471_27-34464del
XM_011533072.2:c.27-34471_27-34464del XP_011531374.1:n.27-34471_27-34464del
NM_000348.4:c.281+12383_281+12390del MANE Select NP_000339.2:n.281+12383_281+12390del