Canonical Allele Identifier: CA8700107

Gene: ACE

Linked Data

• dbSNP Id: rs764472649
• ExAC: 17:61566203 CAA / C
• gnomAD v2: 17-61566203-CAA-C
• gnomAD v3: 17-63488842-CAA-C
• gnomAD v4: 17-63488842-CAA-C
• MyVariant Identifiers: chr17:g.61566204_61566205del (hg19) ; chr17:g.63488844_63488845del (hg38) ; chr17:g.63488843_63488844del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488844_63488845del , CM000679.2:g.63488844_63488845del	GRCh38
NC_000017.10:g.61566205_61566206del , CM000679.1:g.61566205_61566206del	GRCh37
NC_000017.9:g.58919937_58919938del	NCBI36
NG_011648.1:g.16772_16773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2449+53_2449+54del MANE Select	ENSP00000290866.4:n.2449+53_2449+54del
ENST00000290863.10:c.727+53_727+54del	ENSP00000290863.6:n.727+53_727+54del
ENST00000290866.9:c.2449+53_2449+54del	ENSP00000290866.4:n.2449+53_2449+54del
ENST00000413513.7:c.727+53_727+54del	ENSP00000392247.3:n.727+53_727+54del
ENST00000428043.5:c.2449+53_2449+54del	ENSP00000397593.2:n.2449+53_2449+54del
ENST00000577647.2:c.727+53_727+54del	ENSP00000464149.1:n.727+53_727+54del
ENST00000578839.5:c.*519+53_*519+54del	ENSP00000462110.2:n.*519+53_*519+54del
ENST00000579204.1:c.708+53_708+54del	ENSP00000464629.1:n.708+53_708+54del
ENST00000579314.5:c.*178+53_*178+54del	ENSP00000462599.1:n.*178+53_*178+54del
ENST00000582005.5:c.*369+53_*369+54del	ENSP00000462002.1:n.*369+53_*369+54del
ENST00000582761.1:c.217+53_217+54del	ENSP00000462909.1:n.217+53_217+54del
ENST00000584865.5:n.395+53_395+54del
NM_000789.3:c.2449+53_2449+54del	NP_000780.1:n.2449+53_2449+54del
NM_001178057.1:c.727+53_727+54del	NP_001171528.1:n.727+53_727+54del
NM_152830.2:c.727+53_727+54del	NP_690043.1:n.727+53_727+54del
XM_005257110.1:c.1900+53_1900+54del	XP_005257167.1:n.1900+53_1900+54del
XM_006721737.2:c.787+53_787+54del	XP_006721800.2:n.787+53_787+54del
XM_006721737.3:c.787+53_787+54del	XP_006721800.2:n.787+53_787+54del
NM_000789.4:c.2449+53_2449+54del MANE Select	NP_000780.1:n.2449+53_2449+54del
NM_001178057.2:c.727+53_727+54del	NP_001171528.1:n.727+53_727+54del
NM_152830.3:c.727+53_727+54del	NP_690043.1:n.727+53_727+54del
NM_001382700.1:c.1882+53_1882+54del	NP_001369629.1:n.1882+53_1882+54del
NM_001382701.1:c.1597+53_1597+54del	NP_001369630.1:n.1597+53_1597+54del
NM_001382702.1:c.379+53_379+54del	NP_001369631.1:n.379+53_379+54del
NR_168483.1:n.827+53_827+54del