Canonical Allele Identifier: CA2770519640

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039096_32039097insC , CM000668.2:g.32039096_32039097insC	GRCh38
NC_000006.11:g.32006873_32006874insC , CM000668.1:g.32006873_32006874insC	GRCh37
NC_000006.10:g.32114852_32114853insC	NCBI36
NG_007941.2:g.5789_5790insC
NG_007941.3:g.5792_5793insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.295_296insC MANE Select	ENSP00000496625.1:p.Lys99ThrfsTer5
ENST00000418967.6:c.295_296insC	ENSP00000408860.2:p.Lys99ThrfsTer5
ENST00000435122.3:c.205_206insC	ENSP00000415043.2:p.Lys69ThrfsTer5
ENST00000464325.5:n.230-14_230-13insC
ENST00000466779.5:c.314_315insC	ENSP00000417321.1:p.Gln105HisfsTer?
ENST00000466879.5:n.346_347insC
ENST00000469053.5:c.224_225insC	ENSP00000418104.1:p.Gln75HisfsTer?
ENST00000471671.4:c.295_296insC	ENSP00000418561.1:p.Lys99ThrfsTer5
ENST00000478281.5:c.328_329insC	ENSP00000419572.1:p.Lys110ThrfsTer5
ENST00000479074.5:n.353_354insC
ENST00000479730.5:n.450_451insC
ENST00000480027.1:n.630_631insC
ENST00000483041.5:n.464_465insC
ENST00000486063.5:n.475_476insC
ENST00000488465.1:n.303_304insC
NM_000500.7:c.295_296insC	NP_000491.4:p.Lys99ThrfsTer5
NM_001128590.3:c.205_206insC	NP_001122062.3:p.Lys69ThrfsTer5
XM_011514314.1:c.-111_-110insC	XP_011512616.1:n.-111_-110insC
NM_000500.9:c.295_296insC MANE Select	NP_000491.4:p.Lys99ThrfsTer5
NM_001368143.1:c.-111_-110insC	NP_001355072.1:n.-111_-110insC
NM_001368144.1:c.-111_-110insC	NP_001355073.1:n.-111_-110insC
NM_001128590.4:c.205_206insC	NP_001122062.3:p.Lys69ThrfsTer5
NM_001368143.2:c.-111_-110insC	NP_001355072.1:n.-111_-110insC
NM_001368144.2:c.-111_-110insC	NP_001355073.1:n.-111_-110insC