Canonical Allele Identifier: CA1619399535
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040981_32040999delinsACTGCTGCAGGCCTTCACG , CM000668.2:g.32040981_32040999delinsACTGCTGCAGGCCTTCACG GRCh38
NC_000006.11:g.32008758_32008776delinsACTGCTGCAGGCCTTCACG , CM000668.1:g.32008758_32008776delinsACTGCTGCAGGCCTTCACG GRCh37
NC_000006.10:g.32116737_32116755delinsACTGCTGCAGGCCTTCACG NCBI36
NG_007941.2:g.7674_7692delinsACTGCTGCAGGCCTTCACG
NG_008337.2:g.73376_73394delinsCGTGAAGGCCTGCAGCAGT
NG_007941.3:g.7677_7695delinsACTGCTGCAGGCCTTCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1335_1353delinsACTGCTGCAGGCCTTCACG MANE Select ENSP00000496625.1:p.Arg445=
ENST00000418967.6:c.1335_1353delinsACTGCTGCAGGCCTTCACG ENSP00000408860.2:p.Arg445=
ENST00000435122.3:c.1245_1263delinsACTGCTGCAGGCCTTCACG ENSP00000415043.2:p.Arg415=
ENST00000479074.5:n.1476_1494delinsACTGCTGCAGGCCTTCACG
ENST00000479730.5:n.1451_1469delinsACTGCTGCAGGCCTTCACG
ENST00000483041.5:n.1504_1522delinsACTGCTGCAGGCCTTCACG
ENST00000486063.5:n.1314_1332delinsACTGCTGCAGGCCTTCACG
NM_000500.7:c.1335_1353delinsACTGCTGCAGGCCTTCACG NP_000491.4:p.Arg445=
NM_001128590.3:c.1245_1263delinsACTGCTGCAGGCCTTCACG NP_001122062.3:p.Arg415=
XM_011514314.1:c.930_948delinsACTGCTGCAGGCCTTCACG XP_011512616.1:p.Arg310=
NM_000500.9:c.1335_1353delinsACTGCTGCAGGCCTTCACG MANE Select NP_000491.4:p.Arg445=
NM_001368143.1:c.930_948delinsACTGCTGCAGGCCTTCACG NP_001355072.1:p.Arg310=
NM_001368144.1:c.930_948delinsACTGCTGCAGGCCTTCACG NP_001355073.1:p.Arg310=
NM_001128590.4:c.1245_1263delinsACTGCTGCAGGCCTTCACG NP_001122062.3:p.Arg415=
NM_001368143.2:c.930_948delinsACTGCTGCAGGCCTTCACG NP_001355072.1:p.Arg310=
NM_001368144.2:c.930_948delinsACTGCTGCAGGCCTTCACG NP_001355073.1:p.Arg310=