Canonical Allele Identifier: CA2639237501

Gene: ACE

Linked Data

• gnomAD v4: 17-63477779-CCGCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477781_63477786del , CM000679.2:g.63477781_63477786del	GRCh38
NC_000017.10:g.61555142_61555147del , CM000679.1:g.61555142_61555147del	GRCh37
NC_000017.9:g.58908874_58908879del	NCBI36
NG_011648.1:g.5709_5714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.250-150_250-145del MANE Select	ENSP00000290866.4:n.250-150_250-145del
ENST00000290866.9:c.250-150_250-145del	ENSP00000290866.4:n.250-150_250-145del
ENST00000428043.5:c.250-150_250-145del	ENSP00000397593.2:n.250-150_250-145del
ENST00000579462.1:n.275-150_275-145del
ENST00000580318.1:n.289_294del
ENST00000582627.1:c.240_245del	ENSP00000462280.1:p.Gln81_Thr82del
ENST00000582678.5:c.250-150_250-145del	ENSP00000462995.1:n.250-150_250-145del
ENST00000583336.5:n.284-150_284-145del
ENST00000584529.5:n.284-150_284-145del
NM_000789.3:c.250-150_250-145del	NP_000780.1:n.250-150_250-145del
XM_005257110.1:c.-206-150_-206-145del	XP_005257167.1:n.-206-150_-206-145del
NM_000789.4:c.250-150_250-145del MANE Select	NP_000780.1:n.250-150_250-145del
NM_001382700.1:c.15-150_15-145del	NP_001369629.1:n.15-150_15-145del
NM_001382701.1:c.-365-150_-365-145del	NP_001369630.1:n.-365-150_-365-145del