Canonical Allele Identifier: CA2678088305

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038593-GCCCATCTACAGGCTCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038595_32038612del , CM000668.2:g.32038595_32038612del	GRCh38
NC_000006.11:g.32006372_32006389del , CM000668.1:g.32006372_32006389del	GRCh37
NC_000006.10:g.32114351_32114368del	NCBI36
NG_007941.2:g.5288_5305del
NG_007941.3:g.5291_5308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.173_190del MANE Select	ENSP00000496625.1:p.Pro58_His63del
ENST00000418967.6:c.173_190del	ENSP00000408860.2:p.Pro58_His63del
ENST00000435122.3:c.173_190del	ENSP00000415043.2:p.Pro58_His63del
ENST00000464325.5:n.13_30del
ENST00000466779.5:c.173_190del	ENSP00000417321.1:p.Pro58_His63del
ENST00000469053.5:c.173_190del	ENSP00000418104.1:p.Pro58_His63del
ENST00000471671.4:c.173_190del	ENSP00000418561.1:p.Pro58_His63del
ENST00000478281.5:c.173_190del	ENSP00000419572.1:p.Pro58_His63del
ENST00000479074.5:n.231_248del
ENST00000479730.5:n.231_248del
ENST00000480027.1:n.226_243del
ENST00000483041.5:n.226_243del
ENST00000486063.5:n.256_273del
ENST00000488465.1:n.181_198del
NM_000500.7:c.173_190del	NP_000491.4:p.Pro58_His63del
NM_001128590.3:c.173_190del	NP_001122062.3:p.Pro58_His63del
XM_011514314.1:c.-252_-235del	XP_011512616.1:n.-252_-235del
NM_000500.9:c.173_190del MANE Select	NP_000491.4:p.Pro58_His63del
NM_001368143.1:c.-252_-235del	NP_001355072.1:n.-252_-235del
NM_001368144.1:c.-162_-145del	NP_001355073.1:n.-162_-145del
NM_001128590.4:c.173_190del	NP_001122062.3:p.Pro58_His63del
NM_001368143.2:c.-252_-235del	NP_001355072.1:n.-252_-235del
NM_001368144.2:c.-162_-145del	NP_001355073.1:n.-162_-145del