Canonical Allele Identifier: CA2639237452

Gene: ACE

Linked Data

• gnomAD v4: 17-63477654-GCTGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477656_63477661del , CM000679.2:g.63477656_63477661del	GRCh38
NC_000017.10:g.61555017_61555022del , CM000679.1:g.61555017_61555022del	GRCh37
NC_000017.9:g.58908749_58908754del	NCBI36
NG_011648.1:g.5584_5589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-275_250-270del MANE Select	ENSP00000290866.4:n.250-275_250-270del
ENST00000290866.9:c.250-275_250-270del	ENSP00000290866.4:n.250-275_250-270del
ENST00000428043.5:c.250-275_250-270del	ENSP00000397593.2:n.250-275_250-270del
ENST00000579462.1:n.275-275_275-270del
ENST00000580318.1:n.164_169del
ENST00000582627.1:c.115_120del	ENSP00000462280.1:p.Cys39_His40del
ENST00000582678.5:c.250-275_250-270del	ENSP00000462995.1:n.250-275_250-270del
ENST00000583336.5:n.284-275_284-270del
ENST00000584529.5:n.284-275_284-270del
NM_000789.3:c.250-275_250-270del	NP_000780.1:n.250-275_250-270del
XM_005257110.1:c.-206-275_-206-270del	XP_005257167.1:n.-206-275_-206-270del
NM_000789.4:c.250-275_250-270del MANE Select	NP_000780.1:n.250-275_250-270del
NM_001382700.1:c.15-275_15-270del	NP_001369629.1:n.15-275_15-270del
NM_001382701.1:c.-365-275_-365-270del	NP_001369630.1:n.-365-275_-365-270del