Canonical Allele Identifier: CA2578618015

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039426-TCTGTTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039429_32039435del , CM000668.2:g.32039429_32039435del	GRCh38
NC_000006.11:g.32007206_32007212del , CM000668.1:g.32007206_32007212del	GRCh37
NC_000006.10:g.32115185_32115191del	NCBI36
NG_007941.2:g.6122_6128del
NG_008337.2:g.74942_74948del
NG_007941.3:g.6125_6131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.521_527del MANE Select	ENSP00000496625.1:p.Cys174SerfsTer12
ENST00000418967.6:c.521_527del	ENSP00000408860.2:p.Cys174SerfsTer12
ENST00000435122.3:c.431_437del	ENSP00000415043.2:p.Cys144SerfsTer12
ENST00000462278.1:n.109_115del
ENST00000464325.5:n.442_448del
ENST00000466779.5:c.*213_*219del	ENSP00000417321.1:n.*213_*219del
ENST00000466879.5:n.572_578del
ENST00000469053.5:c.*213_*219del	ENSP00000418104.1:n.*213_*219del
ENST00000471671.4:c.521_527del	ENSP00000418561.1:p.Cys174SerfsTer11
ENST00000479074.5:n.579_585del
ENST00000479730.5:n.676_682del
ENST00000483041.5:n.690_696del
ENST00000486063.5:n.701_707del
ENST00000488465.1:n.529_535del
NM_000500.7:c.521_527del	NP_000491.4:p.Cys174SerfsTer12
NM_001128590.3:c.431_437del	NP_001122062.3:p.Cys144SerfsTer12
XM_011514314.1:c.116_122del	XP_011512616.1:p.Cys39SerfsTer12
NM_000500.9:c.521_527del MANE Select	NP_000491.4:p.Cys174SerfsTer12
NM_001368143.1:c.116_122del	NP_001355072.1:p.Cys39SerfsTer12
NM_001368144.1:c.116_122del	NP_001355073.1:p.Cys39SerfsTer12
NM_001128590.4:c.431_437del	NP_001122062.3:p.Cys144SerfsTer12
NM_001368143.2:c.116_122del	NP_001355072.1:p.Cys39SerfsTer12
NM_001368144.2:c.116_122del	NP_001355073.1:p.Cys39SerfsTer12