Canonical Allele Identifier: CA2658512692
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31580608-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580613del , CM000664.2:g.31580613del GRCh38
NC_000002.11:g.31805683del , CM000664.1:g.31805683del GRCh37
NC_000002.10:g.31659187del NCBI36
NG_008365.1:g.5363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+11del MANE Select ENSP00000477587.1:n.281+11del
ENST00000622030.1:c.281+11del ENSP00000477587.1:n.281+11del
NM_000348.3:c.281+11del NP_000339.2:n.281+11del
XM_011533068.1:c.281+11del XP_011531370.1:n.281+11del
XM_011533070.1:c.27-46843del XP_011531372.1:n.27-46843del
XM_011533071.1:c.27-46843del XP_011531373.1:n.27-46843del
XM_011533072.1:c.27-46843del XP_011531374.1:n.27-46843del
XM_011533072.2:c.27-46843del XP_011531374.1:n.27-46843del
NM_000348.4:c.281+11del MANE Select NP_000339.2:n.281+11del
Search 100 bp 5'
Search 100 bp 3'