Canonical Allele Identifier: CA2678088536

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039683-G-GGGGAGAGGCTGGGGTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039694_32039711dup , CM000668.2:g.32039694_32039711dup	GRCh38
NC_000006.11:g.32007471_32007488dup , CM000668.1:g.32007471_32007488dup	GRCh37
NC_000006.10:g.32115450_32115467dup	NCBI36
NG_007941.2:g.6387_6404dup
NG_008337.2:g.74674_74691dup
NG_007941.3:g.6390_6407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.651+47_652-38dup MANE Select	ENSP00000496625.1:n.651+47_652-38dup
ENST00000418967.6:c.651+47_652-38dup	ENSP00000408860.2:n.651+47_652-38dup
ENST00000435122.3:c.561+47_562-38dup	ENSP00000415043.2:n.561+47_562-38dup
ENST00000462278.1:n.286_303dup
ENST00000464325.5:n.572+47_573-38dup
ENST00000466779.5:c.*343+47_*344-38dup	ENSP00000417321.1:n.*343+47_*344-38dup
ENST00000466879.5:n.702+47_703-38dup
ENST00000479074.5:n.709+47_710-38dup
ENST00000479730.5:n.767+47_768-38dup
ENST00000483041.5:n.820+47_821-38dup
ENST00000486063.5:n.831+47_832-38dup
NM_000500.7:c.651+47_652-38dup	NP_000491.4:n.651+47_652-38dup
NM_001128590.3:c.561+47_562-38dup	NP_001122062.3:n.561+47_562-38dup
XM_011514314.1:c.246+47_247-38dup	XP_011512616.1:n.246+47_247-38dup
NM_000500.9:c.651+47_652-38dup MANE Select	NP_000491.4:n.651+47_652-38dup
NM_001368143.1:c.246+47_247-38dup	NP_001355072.1:n.246+47_247-38dup
NM_001368144.1:c.246+47_247-38dup	NP_001355073.1:n.246+47_247-38dup
NM_001128590.4:c.561+47_562-38dup	NP_001122062.3:n.561+47_562-38dup
NM_001368143.2:c.246+47_247-38dup	NP_001355072.1:n.246+47_247-38dup
NM_001368144.2:c.246+47_247-38dup	NP_001355073.1:n.246+47_247-38dup