Canonical Allele Identifier: CA2678090518

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040944-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040944_32040945insA , CM000668.2:g.32040944_32040945insA	GRCh38
NC_000006.11:g.32008721_32008722insA , CM000668.1:g.32008721_32008722insA	GRCh37
NC_000006.10:g.32116700_32116701insA	NCBI36
NG_007941.2:g.7637_7638insA
NG_008337.2:g.73430_73431insT
NG_007941.3:g.7640_7641insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1298_1299insA MANE Select	ENSP00000496625.1:p.Leu434AlafsTer?
ENST00000418967.6:c.1298_1299insA	ENSP00000408860.2:p.Leu434AlafsTer?
ENST00000435122.3:c.1208_1209insA	ENSP00000415043.2:p.Leu404AlafsTer?
ENST00000479074.5:n.1439_1440insA
ENST00000479730.5:n.1414_1415insA
ENST00000483041.5:n.1467_1468insA
ENST00000486063.5:n.1277_1278insA
NM_000500.7:c.1298_1299insA	NP_000491.4:p.Leu434AlafsTer?
NM_001128590.3:c.1208_1209insA	NP_001122062.3:p.Leu404AlafsTer?
XM_011514314.1:c.893_894insA	XP_011512616.1:p.Leu299AlafsTer?
NM_000500.9:c.1298_1299insA MANE Select	NP_000491.4:p.Leu434AlafsTer?
NM_001368143.1:c.893_894insA	NP_001355072.1:p.Leu299AlafsTer?
NM_001368144.1:c.893_894insA	NP_001355073.1:p.Leu299AlafsTer?
NM_001128590.4:c.1208_1209insA	NP_001122062.3:p.Leu404AlafsTer?
NM_001368143.2:c.893_894insA	NP_001355072.1:p.Leu299AlafsTer?
NM_001368144.2:c.893_894insA	NP_001355073.1:p.Leu299AlafsTer?