Canonical Allele Identifier: CA917713274

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1582300626
• gnomAD v4: 6-32038723-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038730_32038732del , CM000668.2:g.32038730_32038732del	GRCh38
NC_000006.11:g.32006507_32006509del , CM000668.1:g.32006507_32006509del	GRCh37
NC_000006.10:g.32114486_32114488del	NCBI36
NG_007941.2:g.5423_5425del
NG_007941.3:g.5426_5428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.211_213del MANE Select	ENSP00000496625.1:p.Val71del
ENST00000418967.6:c.211_213del	ENSP00000408860.2:p.Val71del
ENST00000435122.3:c.202+106_202+108del	ENSP00000415043.2:n.202+106_202+108del
ENST00000464325.5:n.148_150del
ENST00000466779.5:c.211_213del	ENSP00000417321.1:p.Val71del
ENST00000469053.5:c.202+106_202+108del	ENSP00000418104.1:n.202+106_202+108del
ENST00000471671.4:c.211_213del	ENSP00000418561.1:p.Val71del
ENST00000478281.5:c.211_213del	ENSP00000419572.1:p.Val71del
ENST00000479074.5:n.269_271del
ENST00000479730.5:n.366_368del
ENST00000480027.1:n.264_266del
ENST00000483041.5:n.361_363del
ENST00000486063.5:n.391_393del
ENST00000488465.1:n.219_221del
NM_000500.7:c.211_213del	NP_000491.4:p.Val71del
NM_001128590.3:c.202+106_202+108del	NP_001122062.3:n.202+106_202+108del
XM_011514314.1:c.-214_-212del	XP_011512616.1:n.-214_-212del
NM_000500.9:c.211_213del MANE Select	NP_000491.4:p.Val71del
NM_001368143.1:c.-214_-212del	NP_001355072.1:n.-214_-212del
NM_001368144.1:c.-133+106_-133+108del	NP_001355073.1:n.-133+106_-133+108del
NM_001128590.4:c.202+106_202+108del	NP_001122062.3:n.202+106_202+108del
NM_001368143.2:c.-214_-212del	NP_001355072.1:n.-214_-212del
NM_001368144.2:c.-133+106_-133+108del	NP_001355073.1:n.-133+106_-133+108del