Canonical Allele Identifier: CA2576349887

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477956_63477957del , CM000679.2:g.63477956_63477957del	GRCh38
NC_000017.10:g.61555317_61555318del , CM000679.1:g.61555317_61555318del	GRCh37
NC_000017.9:g.58909049_58909050del	NCBI36
NG_011648.1:g.5884_5885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.275_276del MANE Select	ENSP00000290866.4:p.Glu92ValfsTer14
ENST00000290866.9:c.275_276del	ENSP00000290866.4:p.Glu92ValfsTer14
ENST00000428043.5:c.275_276del	ENSP00000397593.2:p.Glu92ValfsTer14
ENST00000579462.1:n.300_301del
ENST00000580318.1:n.464_465del
ENST00000582627.1:c.275_276del	ENSP00000462280.1:p.Glu92ValfsTer14
ENST00000582678.5:c.275_276del	ENSP00000462995.1:p.Glu92ValfsTer14
ENST00000583336.5:n.309_310del
ENST00000584529.5:n.309_310del
NM_000789.3:c.275_276del	NP_000780.1:p.Glu92ValfsTer14
XM_005257110.1:c.-181_-180del	XP_005257167.1:n.-181_-180del
NM_000789.4:c.275_276del MANE Select	NP_000780.1:p.Glu92ValfsTer14
NM_001382700.1:c.40_41del	NP_001369629.1:p.Ser14PhefsTer?
NM_001382701.1:c.-340_-339del	NP_001369630.1:n.-340_-339del