Canonical Allele Identifier: CA1242195905
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1665775336
gnomAD v4: 2-31526127-TAC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526129_31526130del , CM000664.2:g.31526129_31526130del GRCh38
NC_000002.11:g.31751199_31751200del , CM000664.1:g.31751199_31751200del GRCh37
NC_000002.10:g.31604703_31604704del NCBI36
NG_008365.1:g.59843_59844del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.*67_*68del MANE Select ENSP00000477587.1:n.*67_*68del
ENST00000622030.1:c.*67_*68del ENSP00000477587.1:n.*67_*68del
NM_000348.3:c.*67_*68del NP_000339.2:n.*67_*68del
XM_011533069.1:c.*67_*68del XP_011531371.1:n.*67_*68del
XM_011533070.1:c.*67_*68del XP_011531372.1:n.*67_*68del
XM_011533071.1:c.*67_*68del XP_011531373.1:n.*67_*68del
XM_011533072.1:c.*67_*68del XP_011531374.1:n.*67_*68del
XM_011533069.2:c.*67_*68del XP_011531371.1:n.*67_*68del
XM_011533072.2:c.*67_*68del XP_011531374.1:n.*67_*68del
NM_000348.4:c.*67_*68del MANE Select NP_000339.2:n.*67_*68del
Search 100 bp 5'
Search 100 bp 3'