Canonical Allele Identifier: CA3732478

Gene: CYP21A2

Linked Data

• dbSNP Id: rs774395851
• ExAC: 6:32007507 CTCA / C
• gnomAD v2: 6-32007507-CTCA-C
• gnomAD v3: 6-32039730-CTCA-C
• gnomAD v4: 6-32039730-CTCA-C
• MyVariant Identifiers: chr6:g.32007508_32007510del (hg19) ; chr6:g.32039731_32039733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039732_32039734del , CM000668.2:g.32039732_32039734del	GRCh38
NC_000006.11:g.32007509_32007511del , CM000668.1:g.32007509_32007511del	GRCh37
NC_000006.10:g.32115488_32115490del	NCBI36
NG_007941.2:g.6425_6427del
NG_008337.2:g.74642_74644del
NG_007941.3:g.6428_6430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.652-17_652-15del MANE Select	ENSP00000496625.1:n.652-17_652-15del
ENST00000418967.6:c.652-17_652-15del	ENSP00000408860.2:n.652-17_652-15del
ENST00000435122.3:c.562-17_562-15del	ENSP00000415043.2:n.562-17_562-15del
ENST00000462278.1:n.324_326del
ENST00000464325.5:n.573-17_573-15del
ENST00000466779.5:c.*344-17_*344-15del	ENSP00000417321.1:n.*344-17_*344-15del
ENST00000466879.5:n.703-17_703-15del
ENST00000479074.5:n.710-17_710-15del
ENST00000479730.5:n.768-17_768-15del
ENST00000483041.5:n.821-17_821-15del
ENST00000486063.5:n.832-17_832-15del
NM_000500.7:c.652-17_652-15del	NP_000491.4:n.652-17_652-15del
NM_001128590.3:c.562-17_562-15del	NP_001122062.3:n.562-17_562-15del
XM_011514314.1:c.247-17_247-15del	XP_011512616.1:n.247-17_247-15del
NM_000500.9:c.652-17_652-15del MANE Select	NP_000491.4:n.652-17_652-15del
NM_001368143.1:c.247-17_247-15del	NP_001355072.1:n.247-17_247-15del
NM_001368144.1:c.247-17_247-15del	NP_001355073.1:n.247-17_247-15del
NM_001128590.4:c.562-17_562-15del	NP_001122062.3:n.562-17_562-15del
NM_001368143.2:c.247-17_247-15del	NP_001355072.1:n.247-17_247-15del
NM_001368144.2:c.247-17_247-15del	NP_001355073.1:n.247-17_247-15del