Canonical Allele Identifier: CA2741428373
Gene: CYP19A1 HGNC NCBI
PIRC66 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51319485_51319486del , CM000677.2:g.51319485_51319486del GRCh38
NC_000015.9:g.51611682_51611683del , CM000677.1:g.51611682_51611683del GRCh37
NC_000015.8:g.49398974_49398975del NCBI36
NG_007982.1:g.24115_24116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396402.6:c.-39+19011_-39+19012del (CYP19A1) MANE Select ENSP00000379683.1:n.-39+19011_-39+19012del
ENST00000260433.6:c.-39+4332_-39+4333del (CYP19A1) ENSP00000260433.2:n.-39+4332_-39+4333del
ENST00000396402.5:c.-39+19011_-39+19012del (CYP19A1) ENSP00000379683.1:n.-39+19011_-39+19012del
ENST00000396404.8:c.-39+4332_-39+4333del (CYP19A1) ENSP00000379685.4:n.-39+4332_-39+4333del
ENST00000405011.6:c.-194+19011_-194+19012del (CYP19A1) ENSP00000384389.2:n.-194+19011_-194+19012del
ENST00000439712.6:c.-283+19011_-283+19012del (CYP19A1) ENSP00000390614.2:n.-283+19011_-283+19012del
ENST00000453807.6:c.-230+19011_-230+19012del (CYP19A1) ENSP00000391139.2:n.-230+19011_-230+19012del
ENST00000492852.1:n.234-485_234-484del (CYP19A1)
ENST00000557858.5:c.-39+19011_-39+19012del (CYP19A1) ENSP00000452627.1:n.-39+19011_-39+19012del
ENST00000557934.5:c.-39+19011_-39+19012del (CYP19A1) ENSP00000454004.1:n.-39+19011_-39+19012del
ENST00000558328.5:c.-39+18953_-39+18954del (CYP19A1) ENSP00000453280.1:n.-39+18953_-39+18954del
ENST00000559980.5:c.-283+18334_-283+18335del (CYP19A1) ENSP00000452872.1:n.-283+18334_-283+18335del
ENST00000561075.5:c.-39+19011_-39+19012del (CYP19A1) ENSP00000454039.1:n.-39+19011_-39+19012del
NM_000103.3:c.-39+19011_-39+19012del (CYP19A1) NP_000094.2:n.-39+19011_-39+19012del
NM_031226.2:c.-39+4332_-39+4333del (CYP19A1) NP_112503.1:n.-39+4332_-39+4333del
XR_932224.1:n.3218-1464_3218-1463del (PIRC66)
XR_932226.1:n.2511-1464_2511-1463del (PIRC66)
XR_932229.1:n.5995-1464_5995-1463del (PIRC66)
XR_932230.1:n.294-1464_294-1463del (PIRC66)
NM_001347248.1:c.-39+4332_-39+4333del (CYP19A1) NP_001334177.1:n.-39+4332_-39+4333del
NM_000103.4:c.-39+19011_-39+19012del (CYP19A1) MANE Select NP_000094.2:n.-39+19011_-39+19012del
NM_031226.3:c.-39+4332_-39+4333del (CYP19A1) NP_112503.1:n.-39+4332_-39+4333del