Canonical Allele Identifier: CA2804143506
Gene: CYP19A1 HGNC NCBI
PIRC66 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51321287del , CM000677.2:g.51321287del GRCh38
NC_000015.9:g.51613484del , CM000677.1:g.51613484del GRCh37
NC_000015.8:g.49400776del NCBI36
NG_007982.1:g.22315del

Transcript Alleles

HGVS Amino-acid change
ENST00000396402.6:c.-39+17211del (CYP19A1) MANE Select ENSP00000379683.1:n.-39+17211del
ENST00000260433.6:c.-39+2532del (CYP19A1) ENSP00000260433.2:n.-39+2532del
ENST00000396402.5:c.-39+17211del (CYP19A1) ENSP00000379683.1:n.-39+17211del
ENST00000396404.8:c.-39+2532del (CYP19A1) ENSP00000379685.4:n.-39+2532del
ENST00000405011.6:c.-194+17211del (CYP19A1) ENSP00000384389.2:n.-194+17211del
ENST00000439712.6:c.-283+17211del (CYP19A1) ENSP00000390614.2:n.-283+17211del
ENST00000453807.6:c.-230+17211del (CYP19A1) ENSP00000391139.2:n.-230+17211del
ENST00000492852.1:n.88-911del (CYP19A1)
ENST00000557858.5:c.-39+17211del (CYP19A1) ENSP00000452627.1:n.-39+17211del
ENST00000557934.5:c.-39+17211del (CYP19A1) ENSP00000454004.1:n.-39+17211del
ENST00000558328.5:c.-39+17153del (CYP19A1) ENSP00000453280.1:n.-39+17153del
ENST00000559980.5:c.-283+16534del (CYP19A1) ENSP00000452872.1:n.-283+16534del
ENST00000561075.5:c.-39+17211del (CYP19A1) ENSP00000454039.1:n.-39+17211del
NM_000103.3:c.-39+17211del (CYP19A1) NP_000094.2:n.-39+17211del
NM_031226.2:c.-39+2532del (CYP19A1) NP_112503.1:n.-39+2532del
XR_932224.1:n.3308+248del (PIRC66)
XR_932226.1:n.2601+248del (PIRC66)
XR_932229.1:n.6085+248del (PIRC66)
XR_932230.1:n.384+248del (PIRC66)
NM_001347248.1:c.-39+2532del (CYP19A1) NP_001334177.1:n.-39+2532del
XR_002957708.1:n.364+248del
NM_000103.4:c.-39+17211del (CYP19A1) MANE Select NP_000094.2:n.-39+17211del
NM_031226.3:c.-39+2532del (CYP19A1) NP_112503.1:n.-39+2532del