Canonical Allele Identifier: CA2576350517

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497288_63497289insCAGT , CM000679.2:g.63497288_63497289insCAGT	GRCh38
NC_000017.10:g.61574649_61574650insCAGT , CM000679.1:g.61574649_61574650insCAGT	GRCh37
NC_000017.9:g.58928381_58928382insCAGT	NCBI36
NG_011648.1:g.25216_25217insCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3843_3844insCAGT MANE Select	ENSP00000290866.4:p.Ser1282GlnfsTer2
ENST00000290863.10:c.2121_2122insCAGT	ENSP00000290863.6:p.Ser708GlnfsTer2
ENST00000290866.9:c.3843_3844insCAGT	ENSP00000290866.4:p.Ser1282GlnfsTer2
ENST00000413513.7:c.1998_1999insCAGT	ENSP00000392247.3:p.Ser667GlnfsTer2
ENST00000428043.5:c.*265_*266insCAGT	ENSP00000397593.2:n.*265_*266insCAGT
ENST00000577647.2:c.1969+303_1969+304insCAGT	ENSP00000464149.1:n.1969+303_1969+304insCAGT
ENST00000578839.5:c.*1598_*1599insCAGT	ENSP00000462110.2:n.*1598_*1599insCAGT
ENST00000579314.5:c.*1572_*1573insCAGT	ENSP00000462599.1:n.*1572_*1573insCAGT
NM_000789.3:c.3843_3844insCAGT	NP_000780.1:p.Ser1282GlnfsTer2
NM_001178057.1:c.1998_1999insCAGT	NP_001171528.1:p.Ser667GlnfsTer2
NM_152830.2:c.2121_2122insCAGT	NP_690043.1:p.Ser708GlnfsTer2
XM_005257110.1:c.3294_3295insCAGT	XP_005257167.1:p.Ser1099GlnfsTer2
XM_006721737.2:c.2181_2182insCAGT	XP_006721800.2:p.Ser728GlnfsTer2
XM_006721737.3:c.2181_2182insCAGT	XP_006721800.2:p.Ser728GlnfsTer2
NM_000789.4:c.3843_3844insCAGT MANE Select	NP_000780.1:p.Ser1282GlnfsTer2
NM_001178057.2:c.1998_1999insCAGT	NP_001171528.1:p.Ser667GlnfsTer2
NM_152830.3:c.2121_2122insCAGT	NP_690043.1:p.Ser708GlnfsTer2
NM_001382700.1:c.3276_3277insCAGT	NP_001369629.1:p.Ser1093GlnfsTer2
NM_001382701.1:c.2991_2992insCAGT	NP_001369630.1:p.Ser998GlnfsTer2
NM_001382702.1:c.1458_1459insCAGT	NP_001369631.1:p.Ser487GlnfsTer2
NR_168483.1:n.2221_2222insCAGT