Canonical Allele Identifier: CA2576350421

Gene: ACE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497001_63497005del , CM000679.2:g.63497001_63497005del	GRCh38
NC_000017.10:g.61574362_61574366del , CM000679.1:g.61574362_61574366del	GRCh37
NC_000017.9:g.58928094_58928098del	NCBI36
NG_011648.1:g.24929_24933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3691+16_3691+20del MANE Select	ENSP00000290866.4:n.3691+16_3691+20del
ENST00000290863.10:c.1969+16_1969+20del	ENSP00000290863.6:n.1969+16_1969+20del
ENST00000290866.9:c.3691+16_3691+20del	ENSP00000290866.4:n.3691+16_3691+20del
ENST00000413513.7:c.1846+16_1846+20del	ENSP00000392247.3:n.1846+16_1846+20del
ENST00000428043.5:c.3707_3711del	ENSP00000397593.2:p.Pro1236LeufsTer?
ENST00000577418.5:n.701+16_701+20del
ENST00000577647.2:c.1969+16_1969+20del	ENSP00000464149.1:n.1969+16_1969+20del
ENST00000578839.5:c.*1446+16_*1446+20del	ENSP00000462110.2:n.*1446+16_*1446+20del
ENST00000579314.5:c.*1420+16_*1420+20del	ENSP00000462599.1:n.*1420+16_*1420+20del
ENST00000579409.1:c.394_398del
NM_000789.3:c.3691+16_3691+20del	NP_000780.1:n.3691+16_3691+20del
NM_001178057.1:c.1846+16_1846+20del	NP_001171528.1:n.1846+16_1846+20del
NM_152830.2:c.1969+16_1969+20del	NP_690043.1:n.1969+16_1969+20del
XM_005257110.1:c.3142+16_3142+20del	XP_005257167.1:n.3142+16_3142+20del
XM_006721737.2:c.2029+16_2029+20del	XP_006721800.2:n.2029+16_2029+20del
XM_006721737.3:c.2029+16_2029+20del	XP_006721800.2:n.2029+16_2029+20del
NM_000789.4:c.3691+16_3691+20del MANE Select	NP_000780.1:n.3691+16_3691+20del
NM_001178057.2:c.1846+16_1846+20del	NP_001171528.1:n.1846+16_1846+20del
NM_152830.3:c.1969+16_1969+20del	NP_690043.1:n.1969+16_1969+20del
NM_001382700.1:c.3124+16_3124+20del	NP_001369629.1:n.3124+16_3124+20del
NM_001382701.1:c.2839+16_2839+20del	NP_001369630.1:n.2839+16_2839+20del
NM_001382702.1:c.1306+16_1306+20del	NP_001369631.1:n.1306+16_1306+20del
NR_168483.1:n.2069+16_2069+20del