Canonical Allele Identifier: CA2673164873
Gene: SRD5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651774_6651775del , CM000667.2:g.6651774_6651775del GRCh38
NC_000005.9:g.6651887_6651888del , CM000667.1:g.6651887_6651888del GRCh37
NC_000005.8:g.6704887_6704888del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.294-68_294-67del ENSP00000518753.1:n.294-68_294-67del
ENST00000510531.6:c.*415-68_*415-67del ENSP00000425330.1:n.*415-68_*415-67del
ENST00000274192.7:c.294-68_294-67del MANE Select ENSP00000274192.5:n.294-68_294-67del
ENST00000274192.6:c.294-68_294-67del ENSP00000274192.5:n.294-68_294-67del
ENST00000504286.1:n.415-68_415-67del
ENST00000510531.5:c.*415-68_*415-67del ENSP00000425330.1:n.*415-68_*415-67del
ENST00000513117.1:c.294-4304_294-4303del ENSP00000421342.1:n.294-4304_294-4303del
NM_001047.2:c.294-68_294-67del NP_001038.1:n.294-68_294-67del
XM_011514103.1:c.320-4304_320-4303del XP_011512405.1:n.320-4304_320-4303del
NM_001047.3:c.294-68_294-67del NP_001038.1:n.294-68_294-67del
NM_001324322.1:c.320-4304_320-4303del NP_001311251.1:n.320-4304_320-4303del
NM_001324323.1:c.75-68_75-67del NP_001311252.1:n.75-68_75-67del
NR_136739.1:n.549-68_549-67del
NM_001047.4:c.294-68_294-67del MANE Select NP_001038.1:n.294-68_294-67del
NM_001324322.2:c.320-4304_320-4303del NP_001311251.1:n.320-4304_320-4303del
NM_001324323.2:c.75-68_75-67del NP_001311252.1:n.75-68_75-67del
NR_136739.2:n.431-68_431-67del