Canonical Allele Identifier: CA2678089021

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040181-GGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040182_32040185del , CM000668.2:g.32040182_32040185del	GRCh38
NC_000006.11:g.32007959_32007962del , CM000668.1:g.32007959_32007962del	GRCh37
NC_000006.10:g.32115938_32115941del	NCBI36
NG_007941.2:g.6875_6878del
NG_008337.2:g.74190_74193del
NG_007941.3:g.6878_6881del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.916_919del MANE Select	ENSP00000496625.1:p.Val306PhefsTer16
ENST00000418967.6:c.916_919del	ENSP00000408860.2:p.Val306PhefsTer16
ENST00000435122.3:c.826_829del	ENSP00000415043.2:p.Val276PhefsTer16
ENST00000479074.5:n.974_977del
ENST00000479730.5:n.1032_1035del
ENST00000483041.5:n.1085_1088del
ENST00000486063.5:n.919-224_919-221del
NM_000500.7:c.916_919del	NP_000491.4:p.Val306PhefsTer16
NM_001128590.3:c.826_829del	NP_001122062.3:p.Val276PhefsTer16
XM_011514314.1:c.511_514del	XP_011512616.1:p.Val171PhefsTer16
NM_000500.9:c.916_919del MANE Select	NP_000491.4:p.Val306PhefsTer16
NM_001368143.1:c.511_514del	NP_001355072.1:p.Val171PhefsTer16
NM_001368144.1:c.511_514del	NP_001355073.1:p.Val171PhefsTer16
NM_001128590.4:c.826_829del	NP_001122062.3:p.Val276PhefsTer16
NM_001368143.2:c.511_514del	NP_001355072.1:p.Val171PhefsTer16
NM_001368144.2:c.511_514del	NP_001355073.1:p.Val171PhefsTer16