Canonical Allele Identifier: CA566694871

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1562756023
• gnomAD v2: 6-32006804-CGAA-C
• gnomAD v4: 6-32039027-CGAA-C
• MyVariant Identifiers: chr6:g.32006805_32006807del (hg19) ; chr6:g.32039028_32039030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039032_32039034del , CM000668.2:g.32039032_32039034del	GRCh38
NC_000006.11:g.32006809_32006811del , CM000668.1:g.32006809_32006811del	GRCh37
NC_000006.10:g.32114788_32114790del	NCBI36
NG_007941.2:g.5725_5727del
NG_007941.3:g.5728_5730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-62_293-60del MANE Select	ENSP00000496625.1:n.293-62_293-60del
ENST00000418967.6:c.293-62_293-60del	ENSP00000408860.2:n.293-62_293-60del
ENST00000435122.3:c.203-62_203-60del	ENSP00000415043.2:n.203-62_203-60del
ENST00000464325.5:n.230-78_230-76del
ENST00000466779.5:c.293-43_293-41del	ENSP00000417321.1:n.293-43_293-41del
ENST00000466879.5:n.282_284del
ENST00000469053.5:c.203-43_203-41del	ENSP00000418104.1:n.203-43_203-41del
ENST00000471671.4:c.293-62_293-60del	ENSP00000418561.1:n.293-62_293-60del
ENST00000478281.5:c.293-29_293-27del	ENSP00000419572.1:n.293-29_293-27del
ENST00000479074.5:n.351-62_351-60del
ENST00000479730.5:n.448-62_448-60del
ENST00000480027.1:n.566_568del
ENST00000483041.5:n.443-43_443-41del
ENST00000486063.5:n.473-62_473-60del
ENST00000488465.1:n.301-62_301-60del
NM_000500.7:c.293-62_293-60del	NP_000491.4:n.293-62_293-60del
NM_001128590.3:c.203-62_203-60del	NP_001122062.3:n.203-62_203-60del
XM_011514314.1:c.-132-43_-132-41del	XP_011512616.1:n.-132-43_-132-41del
NM_000500.9:c.293-62_293-60del MANE Select	NP_000491.4:n.293-62_293-60del
NM_001368143.1:c.-132-43_-132-41del	NP_001355072.1:n.-132-43_-132-41del
NM_001368144.1:c.-132-43_-132-41del	NP_001355073.1:n.-132-43_-132-41del
NM_001128590.4:c.203-62_203-60del	NP_001122062.3:n.203-62_203-60del
NM_001368143.2:c.-132-43_-132-41del	NP_001355072.1:n.-132-43_-132-41del
NM_001368144.2:c.-132-43_-132-41del	NP_001355073.1:n.-132-43_-132-41del