Canonical Allele Identifier: CA2658498080
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31529200-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529206del , CM000664.2:g.31529206del GRCh38
NC_000002.11:g.31754276del , CM000664.1:g.31754276del GRCh37
NC_000002.10:g.31607780del NCBI36
NG_008365.1:g.56771del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.698+106del MANE Select ENSP00000477587.1:n.698+106del
ENST00000622030.1:c.698+106del ENSP00000477587.1:n.698+106del
NM_000348.3:c.698+106del NP_000339.2:n.698+106del
XM_011533069.1:c.476+106del XP_011531371.1:n.476+106del
XM_011533070.1:c.443+106del XP_011531372.1:n.443+106del
XM_011533071.1:c.443+106del XP_011531373.1:n.443+106del
XM_011533072.1:c.443+106del XP_011531374.1:n.443+106del
XM_011533069.2:c.476+106del XP_011531371.1:n.476+106del
XM_011533072.2:c.443+106del XP_011531374.1:n.443+106del
NM_000348.4:c.698+106del MANE Select NP_000339.2:n.698+106del
Search 100 bp 5'
Search 100 bp 3'