Canonical Allele Identifier: CA2176809297
Gene: CYP19A1 HGNC NCBI
PIRC66 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51321784_51321806delinsGGGACTTGTCCTCTGGCCCCAGA , CM000677.2:g.51321784_51321806delinsGGGACTTGTCCTCTGGCCCCAGA GRCh38
NC_000015.9:g.51613981_51614003delinsGGGACTTGTCCTCTGGCCCCAGA , CM000677.1:g.51613981_51614003delinsGGGACTTGTCCTCTGGCCCCAGA GRCh37
NC_000015.8:g.49401273_49401295delinsGGGACTTGTCCTCTGGCCCCAGA NCBI36
NG_007982.1:g.21793_21815delinsTCTGGGGCCAGAGGACAAGTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000396402.6:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) MANE Select ENSP00000379683.1:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGAC...
ENST00000260433.6:c.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000260433.2:n.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAA...
ENST00000396402.5:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000379683.1:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGAC...
ENST00000396404.8:c.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000379685.4:n.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAA...
ENST00000405011.6:c.-194+16689_-194+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000384389.2:n.-194+16689_-194+16711delinsTCTGGGGCCAGAGG...
ENST00000439712.6:c.-283+16689_-283+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000390614.2:n.-283+16689_-283+16711delinsTCTGGGGCCAGAGG...
ENST00000453807.6:c.-230+16689_-230+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000391139.2:n.-230+16689_-230+16711delinsTCTGGGGCCAGAGG...
ENST00000492852.1:n.88-1433_88-1411delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1)
ENST00000557858.5:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000452627.1:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGAC...
ENST00000557934.5:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000454004.1:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGAC...
ENST00000558328.5:c.-39+16631_-39+16653delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000453280.1:n.-39+16631_-39+16653delinsTCTGGGGCCAGAGGAC...
ENST00000559980.5:c.-283+16012_-283+16034delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000452872.1:n.-283+16012_-283+16034delinsTCTGGGGCCAGAGG...
ENST00000561075.5:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) ENSP00000454039.1:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGAC...
NM_000103.3:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) NP_000094.2:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCC...
NM_031226.2:c.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) NP_112503.1:n.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC
XR_932224.1:n.3484_3506delinsGGGACTTGTCCTCTGGCCCCAGA (PIRC66)
XR_932226.1:n.2777_2799delinsGGGACTTGTCCTCTGGCCCCAGA (PIRC66)
XR_932229.1:n.6261_6283delinsGGGACTTGTCCTCTGGCCCCAGA (PIRC66)
XR_932230.1:n.560_582delinsGGGACTTGTCCTCTGGCCCCAGA (PIRC66)
NM_001347248.1:c.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) NP_001334177.1:n.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTC...
XR_002957708.1:n.540_562delinsGGGACTTGTCCTCTGGCCCCAGA
NM_000103.4:c.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) MANE Select NP_000094.2:n.-39+16689_-39+16711delinsTCTGGGGCCAGAGGACAAGTCC...
NM_031226.3:c.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC (CYP19A1) NP_112503.1:n.-39+2010_-39+2032delinsTCTGGGGCCAGAGGACAAGTCCC