Canonical Allele Identifier: CA1041413235

Gene: CYP20A1

Linked Data

• gnomAD v3: 2-203300448-T-TCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC
• gnomAD v4: 2-203300448-T-TCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203300448_203300449insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC , CM000664.2:g.203300448_203300449insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	GRCh38
NC_000002.11:g.204165171_204165172insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC , CM000664.1:g.204165171_204165172insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	GRCh37
NC_000002.10:g.203873416_203873417insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NCBI36
NG_007956.1:g.67008_67009insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356079.9:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC MANE Select	ENSP00000348380.4:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTAT...
ENST00000611416.4:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	ENSP00000477866.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTAT...
ENST00000613925.4:c.*380+3160_*380+3161insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	ENSP00000482757.1:n.*380+3160_*380+3161insCTAGCAGGACTCAAGTTAT...
NM_177538.2:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_803882.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATG...
NM_001371695.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358624.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371696.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358625.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371697.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358626.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371698.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358627.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371699.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358628.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371700.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358629.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371701.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358630.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371702.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358631.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371703.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358632.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371704.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358633.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371705.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358634.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_001371706.1:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC	NP_001358635.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAA...
NM_177538.3:c.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC MANE Select	NP_803882.1:n.*3540_*3541insCTAGCAGGACTCAAGTTATTGAACTATCAAATG...
NR_163981.1:n.4853_4854insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC
NR_163982.1:n.4774_4775insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC
NR_163983.1:n.4557_4558insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC
NR_163984.1:n.4616_4617insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC
NR_163985.1:n.4862_4863insCTAGCAGGACTCAAGTTATTGAACTATCAAATGGGTTTAATAGAATGAC