Canonical Allele Identifier: CA1619399434

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040819_32040820delinsTC , CM000668.2:g.32040819_32040820delinsTC	GRCh38
NC_000006.11:g.32008596_32008597delinsTC , CM000668.1:g.32008596_32008597delinsTC	GRCh37
NC_000006.10:g.32116575_32116576delinsTC	NCBI36
NG_007941.2:g.7512_7513delinsTC
NG_008337.2:g.73555_73556delinsGA
NG_007941.3:g.7515_7516delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1222+48_1223-49delinsTC MANE Select	ENSP00000496625.1:n.1222+48_1223-49delins...
ENST00000418967.6:c.1222+48_1223-49delinsTC	ENSP00000408860.2:n.1222+48_1223-49delins...
ENST00000435122.3:c.1132+48_1133-49delinsTC	ENSP00000415043.2:n.1132+48_1133-49delins...
ENST00000479074.5:n.1363+48_1364-49delinsTC
ENST00000479730.5:n.1338+48_1339-49delinsTC
ENST00000483041.5:n.1391+48_1392-49delinsTC
ENST00000486063.5:n.1201+48_1202-49delinsTC
NM_000500.7:c.1222+48_1223-49delinsTC	NP_000491.4:n.1222+48_1223-49delinsTC
NM_001128590.3:c.1132+48_1133-49delinsTC	NP_001122062.3:n.1132+48_1133-49delinsTC
XM_011514314.1:c.817+48_818-49delinsTC	XP_011512616.1:n.817+48_818-49delinsTC
NM_000500.9:c.1222+48_1223-49delinsTC MANE Select	NP_000491.4:n.1222+48_1223-49delinsTC
NM_001368143.1:c.817+48_818-49delinsTC	NP_001355072.1:n.817+48_818-49delinsTC
NM_001368144.1:c.817+48_818-49delinsTC	NP_001355073.1:n.817+48_818-49delinsTC
NM_001128590.4:c.1132+48_1133-49delinsTC	NP_001122062.3:n.1132+48_1133-49delinsTC
NM_001368143.2:c.817+48_818-49delinsTC	NP_001355072.1:n.817+48_818-49delinsTC
NM_001368144.2:c.817+48_818-49delinsTC	NP_001355073.1:n.817+48_818-49delinsTC