Canonical Allele Identifier: CA2678088494

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039672-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039672_32039673insT , CM000668.2:g.32039672_32039673insT	GRCh38
NC_000006.11:g.32007449_32007450insT , CM000668.1:g.32007449_32007450insT	GRCh37
NC_000006.10:g.32115428_32115429insT	NCBI36
NG_007941.2:g.6365_6366insT
NG_008337.2:g.74702_74703insA
NG_007941.3:g.6368_6369insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+25_651+26insT MANE Select	ENSP00000496625.1:n.651+25_651+26insT
ENST00000418967.6:c.651+25_651+26insT	ENSP00000408860.2:n.651+25_651+26insT
ENST00000435122.3:c.561+25_561+26insT	ENSP00000415043.2:n.561+25_561+26insT
ENST00000462278.1:n.264_265insT
ENST00000464325.5:n.572+25_572+26insT
ENST00000466779.5:c.*343+25_*343+26insT	ENSP00000417321.1:n.*343+25_*343+26insT
ENST00000466879.5:n.702+25_702+26insT
ENST00000479074.5:n.709+25_709+26insT
ENST00000479730.5:n.767+25_767+26insT
ENST00000483041.5:n.820+25_820+26insT
ENST00000486063.5:n.831+25_831+26insT
NM_000500.7:c.651+25_651+26insT	NP_000491.4:n.651+25_651+26insT
NM_001128590.3:c.561+25_561+26insT	NP_001122062.3:n.561+25_561+26insT
XM_011514314.1:c.246+25_246+26insT	XP_011512616.1:n.246+25_246+26insT
NM_000500.9:c.651+25_651+26insT MANE Select	NP_000491.4:n.651+25_651+26insT
NM_001368143.1:c.246+25_246+26insT	NP_001355072.1:n.246+25_246+26insT
NM_001368144.1:c.246+25_246+26insT	NP_001355073.1:n.246+25_246+26insT
NM_001128590.4:c.561+25_561+26insT	NP_001122062.3:n.561+25_561+26insT
NM_001368143.2:c.246+25_246+26insT	NP_001355072.1:n.246+25_246+26insT
NM_001368144.2:c.246+25_246+26insT	NP_001355073.1:n.246+25_246+26insT