Canonical Allele Identifier: CA2749376898
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580681_31580686dup , CM000664.2:g.31580681_31580686dup GRCh38
NC_000002.11:g.31805751_31805756dup , CM000664.1:g.31805751_31805756dup GRCh37
NC_000002.10:g.31659255_31659260dup NCBI36
NG_008365.1:g.5292_5297dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.221_226dup MANE Select ENSP00000477587.1:p.Leu75_Phe76insSerLeu
ENST00000622030.1:c.221_226dup ENSP00000477587.1:p.Leu75_Phe76insSerLeu
NM_000348.3:c.221_226dup NP_000339.2:p.Leu75_Phe76insSerLeu
XM_011533068.1:c.221_226dup XP_011531370.1:p.Leu75_Phe76insSerLeu
XM_011533070.1:c.27-46914_27-46909dup XP_011531372.1:n.27-46914_27-46909dup
XM_011533071.1:c.27-46914_27-46909dup XP_011531373.1:n.27-46914_27-46909dup
XM_011533072.1:c.27-46914_27-46909dup XP_011531374.1:n.27-46914_27-46909dup
XM_011533072.2:c.27-46914_27-46909dup XP_011531374.1:n.27-46914_27-46909dup
NM_000348.4:c.221_226dup MANE Select NP_000339.2:p.Leu75_Phe76insSerLeu