Canonical Allele Identifier: CA2269943138

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63483480_63483483delinsGTCC , CM000679.2:g.63483480_63483483delinsGTCC	GRCh38
NC_000017.10:g.61560841_61560844delinsGTCC , CM000679.1:g.61560841_61560844delinsGTCC	GRCh37
NC_000017.9:g.58914573_58914576delinsGTCC	NCBI36
NG_011648.1:g.11408_11411delinsGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.1508_1511delinsGTCC MANE Select	ENSP00000290866.4:p.Cys503=
ENST00000290866.9:c.1508_1511delinsGTCC	ENSP00000290866.4:p.Cys503=
ENST00000428043.5:c.1508_1511delinsGTCC	ENSP00000397593.2:p.Cys503=
ENST00000582678.5:c.*907_*910delinsGTCC	ENSP00000462995.1:n.*907_*910delinsGTCC
ENST00000584529.5:n.1397_1400delinsGTCC
NM_000789.3:c.1508_1511delinsGTCC	NP_000780.1:p.Cys503=
XM_005257110.1:c.959_962delinsGTCC	XP_005257167.1:p.Cys320=
NM_000789.4:c.1508_1511delinsGTCC MANE Select	NP_000780.1:p.Cys503=
NM_001382700.1:c.941_944delinsGTCC	NP_001369629.1:p.Cys314=
NM_001382701.1:c.656_659delinsGTCC	NP_001369630.1:p.Cys219=