Canonical Allele Identifier: CA566693898

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1301085631
• gnomAD v2: 6-32008766-A-AGGCCTTCACGCTGCTGCC
• gnomAD v4: 6-32040989-A-AGGCCTTCACGCTGCTGCC
• MyVariant Identifiers: chr6:g.32008766_32008767insGGCCTTCACGCTGCTGCC (hg19) ; chr6:g.32040989_32040990insGGCCTTCACGCTGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040990_32041007dup , CM000668.2:g.32040990_32041007dup	GRCh38
NC_000006.11:g.32008767_32008784dup , CM000668.1:g.32008767_32008784dup	GRCh37
NC_000006.10:g.32116746_32116763dup	NCBI36
NG_007941.2:g.7683_7700dup
NG_008337.2:g.73368_73385dup
NG_007941.3:g.7686_7703dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1344_1361dup MANE Select	ENSP00000496625.1:p.Pro454_Ser455insAlaPheThrLeuLeuPro
ENST00000418967.6:c.1344_1361dup	ENSP00000408860.2:p.Pro454_Ser455insAlaPheThrLeuLeuPro
ENST00000435122.3:c.1254_1271dup	ENSP00000415043.2:p.Pro424_Ser425insAlaPheThrLeuLeuPro
ENST00000479074.5:n.1485_1502dup
ENST00000479730.5:n.1460_1477dup
ENST00000483041.5:n.1513_1530dup
ENST00000486063.5:n.1323_1340dup
NM_000500.7:c.1344_1361dup	NP_000491.4:p.Pro454_Ser455insAlaPheThrLeuLeuPro
NM_001128590.3:c.1254_1271dup	NP_001122062.3:p.Pro424_Ser425insAlaPheThrLeuLeuPro
XM_011514314.1:c.939_956dup	XP_011512616.1:p.Pro319_Ser320insAlaPheThrLeuLeuPro
NM_000500.9:c.1344_1361dup MANE Select	NP_000491.4:p.Pro454_Ser455insAlaPheThrLeuLeuPro
NM_001368143.1:c.939_956dup	NP_001355072.1:p.Pro319_Ser320insAlaPheThrLeuLeuPro
NM_001368144.1:c.939_956dup	NP_001355073.1:p.Pro319_Ser320insAlaPheThrLeuLeuPro
NM_001128590.4:c.1254_1271dup	NP_001122062.3:p.Pro424_Ser425insAlaPheThrLeuLeuPro
NM_001368143.2:c.939_956dup	NP_001355072.1:p.Pro319_Ser320insAlaPheThrLeuLeuPro
NM_001368144.2:c.939_956dup	NP_001355073.1:p.Pro319_Ser320insAlaPheThrLeuLeuPro