Canonical Allele Identifier: CA2586969029
Gene: SRD5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531447_31531449del , CM000664.2:g.31531447_31531449del GRCh38
NC_000002.11:g.31756517_31756519del , CM000664.1:g.31756517_31756519del GRCh37
NC_000002.10:g.31610021_31610023del NCBI36
NG_008365.1:g.54523_54525del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.469_471del MANE Select ENSP00000477587.1:p.Met157del
ENST00000622030.1:c.469_471del ENSP00000477587.1:p.Met157del
NM_000348.3:c.469_471del NP_000339.2:p.Met157del
XM_011533069.1:c.247_249del XP_011531371.1:p.Met83del
XM_011533070.1:c.214_216del XP_011531372.1:p.Met72del
XM_011533071.1:c.214_216del XP_011531373.1:p.Met72del
XM_011533072.1:c.214_216del XP_011531374.1:p.Met72del
XM_011533069.2:c.247_249del XP_011531371.1:p.Met83del
XM_011533072.2:c.214_216del XP_011531374.1:p.Met72del
NM_000348.4:c.469_471del MANE Select NP_000339.2:p.Met157del
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