Canonical Allele Identifier: CA2576350605
Gene: ACE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63487161_63487162del , CM000679.2:g.63487161_63487162del GRCh38
NC_000017.10:g.61564522_61564523del , CM000679.1:g.61564522_61564523del GRCh37
NC_000017.9:g.58918254_58918255del NCBI36
NG_011648.1:g.15089_15090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290866.10:c.2305+88_2305+89del MANE Select ENSP00000290866.4:n.2305+88_2305+89del
ENST00000290863.10:c.583+88_583+89del ENSP00000290863.6:n.583+88_583+89del
ENST00000290866.9:c.2305+88_2305+89del ENSP00000290866.4:n.2305+88_2305+89del
ENST00000413513.7:c.583+88_583+89del ENSP00000392247.3:n.583+88_583+89del
ENST00000428043.5:c.2305+88_2305+89del ENSP00000397593.2:n.2305+88_2305+89del
ENST00000577647.2:c.583+88_583+89del ENSP00000464149.1:n.583+88_583+89del
ENST00000578839.5:c.*375+88_*375+89del ENSP00000462110.2:n.*375+88_*375+89del
ENST00000579204.1:c.486+88_486+89del ENSP00000464629.1:n.486+88_486+89del
ENST00000579314.5:c.583+88_583+89del ENSP00000462599.1:n.583+88_583+89del
ENST00000582005.5:c.*225+88_*225+89del ENSP00000462002.1:n.*225+88_*225+89del
ENST00000582761.1:c.73+88_73+89del ENSP00000462909.1:n.73+88_73+89del
ENST00000584865.5:n.251+88_251+89del
NM_000789.3:c.2305+88_2305+89del NP_000780.1:n.2305+88_2305+89del
NM_001178057.1:c.583+88_583+89del NP_001171528.1:n.583+88_583+89del
NM_152830.2:c.583+88_583+89del NP_690043.1:n.583+88_583+89del
XM_005257110.1:c.1756+88_1756+89del XP_005257167.1:n.1756+88_1756+89del
XM_006721737.2:c.643+88_643+89del XP_006721800.2:n.643+88_643+89del
XM_006721737.3:c.643+88_643+89del XP_006721800.2:n.643+88_643+89del
NM_000789.4:c.2305+88_2305+89del MANE Select NP_000780.1:n.2305+88_2305+89del
NM_001178057.2:c.583+88_583+89del NP_001171528.1:n.583+88_583+89del
NM_152830.3:c.583+88_583+89del NP_690043.1:n.583+88_583+89del
NM_001382700.1:c.1738+88_1738+89del NP_001369629.1:n.1738+88_1738+89del
NM_001382701.1:c.1453+88_1453+89del NP_001369630.1:n.1453+88_1453+89del
NM_001382702.1:c.235+88_235+89del NP_001369631.1:n.235+88_235+89del
NR_168483.1:n.605+88_605+89del