Canonical Allele Identifier: CA617901926

Gene: CYP19A1 PIRC66

Linked Data

• dbSNP Id: rs1332463358
• gnomAD v2: 15-51611693-GC-G
• gnomAD v3: 15-51319496-GC-G
• gnomAD v4: 15-51319496-GC-G
• MyVariant Identifiers: chr15:g.51611694del (hg19) ; chr15:g.51319497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51319498del , CM000677.2:g.51319498del	GRCh38
NC_000015.9:g.51611695del , CM000677.1:g.51611695del	GRCh37
NC_000015.8:g.49398987del	NCBI36
NG_007982.1:g.24102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396402.6:c.-39+18998del (CYP19A1) MANE Select	ENSP00000379683.1:n.-39+18998del
ENST00000260433.6:c.-39+4319del (CYP19A1)	ENSP00000260433.2:n.-39+4319del
ENST00000396402.5:c.-39+18998del (CYP19A1)	ENSP00000379683.1:n.-39+18998del
ENST00000396404.8:c.-39+4319del (CYP19A1)	ENSP00000379685.4:n.-39+4319del
ENST00000405011.6:c.-194+18998del (CYP19A1)	ENSP00000384389.2:n.-194+18998del
ENST00000439712.6:c.-283+18998del (CYP19A1)	ENSP00000390614.2:n.-283+18998del
ENST00000453807.6:c.-230+18998del (CYP19A1)	ENSP00000391139.2:n.-230+18998del
ENST00000492852.1:n.234-498del (CYP19A1)
ENST00000557858.5:c.-39+18998del (CYP19A1)	ENSP00000452627.1:n.-39+18998del
ENST00000557934.5:c.-39+18998del (CYP19A1)	ENSP00000454004.1:n.-39+18998del
ENST00000558328.5:c.-39+18940del (CYP19A1)	ENSP00000453280.1:n.-39+18940del
ENST00000559980.5:c.-283+18321del (CYP19A1)	ENSP00000452872.1:n.-283+18321del
ENST00000561075.5:c.-39+18998del (CYP19A1)	ENSP00000454039.1:n.-39+18998del
NM_000103.3:c.-39+18998del (CYP19A1)	NP_000094.2:n.-39+18998del
NM_031226.2:c.-39+4319del (CYP19A1)	NP_112503.1:n.-39+4319del
XR_932224.1:n.3218-1451del (PIRC66)
XR_932226.1:n.2511-1451del (PIRC66)
XR_932229.1:n.5995-1451del (PIRC66)
XR_932230.1:n.294-1451del (PIRC66)
NM_001347248.1:c.-39+4319del (CYP19A1)	NP_001334177.1:n.-39+4319del
NM_000103.4:c.-39+18998del (CYP19A1) MANE Select	NP_000094.2:n.-39+18998del
NM_031226.3:c.-39+4319del (CYP19A1)	NP_112503.1:n.-39+4319del