Canonical Allele Identifier: CA713619044

Gene: CYP19A1 PIRC66

Linked Data

• dbSNP Id: rs1169872593
• gnomAD v3: 15-51302765-TC-T
• gnomAD v4: 15-51302765-TC-T
• MyVariant Identifiers: chr15:g.51594963del (hg19) ; chr15:g.51302766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51302767del , CM000677.2:g.51302767del	GRCh38
NC_000015.9:g.51594964del , CM000677.1:g.51594964del	GRCh37
NC_000015.8:g.49382256del	NCBI36
NG_007982.1:g.40833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396402.6:c.-39+35729del (CYP19A1) MANE Select	ENSP00000379683.1:n.-39+35729del
ENST00000260433.6:c.-39+21050del (CYP19A1)	ENSP00000260433.2:n.-39+21050del
ENST00000396402.5:c.-39+35729del (CYP19A1)	ENSP00000379683.1:n.-39+35729del
ENST00000396404.8:c.-39+21050del (CYP19A1)	ENSP00000379685.4:n.-39+21050del
ENST00000405011.6:c.-193-24604del (CYP19A1)	ENSP00000384389.2:n.-193-24604del
ENST00000439712.6:c.-283+35729del (CYP19A1)	ENSP00000390614.2:n.-283+35729del
ENST00000453807.6:c.-230+35729del (CYP19A1)	ENSP00000391139.2:n.-230+35729del
ENST00000557858.5:c.-39+35729del (CYP19A1)	ENSP00000452627.1:n.-39+35729del
ENST00000557934.5:c.-39+35729del (CYP19A1)	ENSP00000454004.1:n.-39+35729del
ENST00000558328.5:c.-39+35671del (CYP19A1)	ENSP00000453280.1:n.-39+35671del
ENST00000559646.1:c.-39+15667del (CYP19A1)	ENSP00000453318.1:n.-39+15667del
ENST00000559980.5:c.-283+35052del (CYP19A1)	ENSP00000452872.1:n.-283+35052del
ENST00000561075.5:c.-39+35729del (CYP19A1)	ENSP00000454039.1:n.-39+35729del
NM_000103.3:c.-39+35729del (CYP19A1)	NP_000094.2:n.-39+35729del
NM_031226.2:c.-39+21050del (CYP19A1)	NP_112503.1:n.-39+21050del
XM_005254191.1:c.-39+15667del (CYP19A1)	XP_005254248.1:n.-39+15667del
XR_932223.1:n.5092del (PIRC66)
XR_932229.1:n.5092del (PIRC66)
NM_001347248.1:c.-39+21050del (CYP19A1)	NP_001334177.1:n.-39+21050del
NM_001347249.1:c.-39+15667del (CYP19A1)	NP_001334178.1:n.-39+15667del
NM_000103.4:c.-39+35729del (CYP19A1) MANE Select	NP_000094.2:n.-39+35729del
NM_001347249.2:c.-39+15667del (CYP19A1)	NP_001334178.1:n.-39+15667del
NM_031226.3:c.-39+21050del (CYP19A1)	NP_112503.1:n.-39+21050del