Canonical Allele Identifier: CA2269940043

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477608_63477609delinsGC , CM000679.2:g.63477608_63477609delinsGC	GRCh38
NC_000017.10:g.61554969_61554970delinsGC , CM000679.1:g.61554969_61554970delinsGC	GRCh37
NC_000017.9:g.58908701_58908702delinsGC	NCBI36
NG_011648.1:g.5536_5537delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+265_249+266delinsGC MANE Select	ENSP00000290866.4:n.249+265_249+266delinsGC
ENST00000290866.9:c.249+265_249+266delinsGC	ENSP00000290866.4:n.249+265_249+266delinsGC
ENST00000428043.5:c.249+265_249+266delinsGC	ENSP00000397593.2:n.249+265_249+266delinsGC
ENST00000579462.1:n.274+265_274+266delinsGC
ENST00000580318.1:n.116_117delinsGC
ENST00000582627.1:c.67_68delinsGC	ENSP00000462280.1:p.Ala23=
ENST00000582678.5:c.249+265_249+266delinsGC	ENSP00000462995.1:n.249+265_249+266delinsGC
ENST00000583336.5:n.283+265_283+266delinsGC
ENST00000584529.5:n.283+265_283+266delinsGC
NM_000789.3:c.249+265_249+266delinsGC	NP_000780.1:n.249+265_249+266delinsGC
XM_005257110.1:c.-207+265_-207+266delinsGC	XP_005257167.1:n.-207+265_-207+266delinsGC
NM_000789.4:c.249+265_249+266delinsGC MANE Select	NP_000780.1:n.249+265_249+266delinsGC
NM_001382700.1:c.14+265_14+266delinsGC	NP_001369629.1:n.14+265_14+266delinsGC
NM_001382701.1:c.-366+265_-366+266delinsGC	NP_001369630.1:n.-366+265_-366+266delinsGC