Canonical Allele Identifier: CA1242221032
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580652_31580663delinsAAGTACCGTCCC , CM000664.2:g.31580652_31580663delinsAAGTACCGTCCC GRCh38
NC_000002.11:g.31805722_31805733delinsAAGTACCGTCCC , CM000664.1:g.31805722_31805733delinsAAGTACCGTCCC GRCh37
NC_000002.10:g.31659226_31659237delinsAAGTACCGTCCC NCBI36
NG_008365.1:g.5309_5320delinsGGGACGGTACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.238_249delinsGGGACGGTACTT MANE Select ENSP00000477587.1:p.Gly80=
ENST00000622030.1:c.238_249delinsGGGACGGTACTT ENSP00000477587.1:p.Gly80=
NM_000348.3:c.238_249delinsGGGACGGTACTT NP_000339.2:p.Gly80=
XM_011533068.1:c.238_249delinsGGGACGGTACTT XP_011531370.1:p.Gly80=
XM_011533070.1:c.27-46897_27-46886delinsGGGACGGTACTT XP_011531372.1:n.27-46897_27-46886delinsGGGACGGTACTT
XM_011533071.1:c.27-46897_27-46886delinsGGGACGGTACTT XP_011531373.1:n.27-46897_27-46886delinsGGGACGGTACTT
XM_011533072.1:c.27-46897_27-46886delinsGGGACGGTACTT XP_011531374.1:n.27-46897_27-46886delinsGGGACGGTACTT
XM_011533072.2:c.27-46897_27-46886delinsGGGACGGTACTT XP_011531374.1:n.27-46897_27-46886delinsGGGACGGTACTT
NM_000348.4:c.238_249delinsGGGACGGTACTT MANE Select NP_000339.2:p.Gly80=