Canonical Allele Identifier: CA2639263662

Gene: ACE

Linked Data

• gnomAD v4: 17-63488549-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488551_63488552del , CM000679.2:g.63488551_63488552del	GRCh38
NC_000017.10:g.61565912_61565913del , CM000679.1:g.61565912_61565913del	GRCh37
NC_000017.9:g.58919644_58919645del	NCBI36
NG_011648.1:g.16479_16480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-97_2306-96del MANE Select	ENSP00000290866.4:n.2306-97_2306-96del
ENST00000290863.10:c.584-97_584-96del	ENSP00000290863.6:n.584-97_584-96del
ENST00000290866.9:c.2306-97_2306-96del	ENSP00000290866.4:n.2306-97_2306-96del
ENST00000413513.7:c.584-97_584-96del	ENSP00000392247.3:n.584-97_584-96del
ENST00000428043.5:c.2306-97_2306-96del	ENSP00000397593.2:n.2306-97_2306-96del
ENST00000577647.2:c.584-97_584-96del	ENSP00000464149.1:n.584-97_584-96del
ENST00000578839.5:c.*376-97_*376-96del	ENSP00000462110.2:n.*376-97_*376-96del
ENST00000579204.1:c.487-19_487-18del	ENSP00000464629.1:n.487-19_487-18del
ENST00000579314.5:c.584-19_584-18del	ENSP00000462599.1:n.584-19_584-18del
ENST00000582005.5:c.*226-97_*226-96del	ENSP00000462002.1:n.*226-97_*226-96del
ENST00000582761.1:c.74-97_74-96del	ENSP00000462909.1:n.74-97_74-96del
ENST00000584865.5:n.252-97_252-96del
NM_000789.3:c.2306-97_2306-96del	NP_000780.1:n.2306-97_2306-96del
NM_001178057.1:c.584-97_584-96del	NP_001171528.1:n.584-97_584-96del
NM_152830.2:c.584-97_584-96del	NP_690043.1:n.584-97_584-96del
XM_005257110.1:c.1757-97_1757-96del	XP_005257167.1:n.1757-97_1757-96del
XM_006721737.2:c.644-97_644-96del	XP_006721800.2:n.644-97_644-96del
XM_006721737.3:c.644-97_644-96del	XP_006721800.2:n.644-97_644-96del
NM_000789.4:c.2306-97_2306-96del MANE Select	NP_000780.1:n.2306-97_2306-96del
NM_001178057.2:c.584-97_584-96del	NP_001171528.1:n.584-97_584-96del
NM_152830.3:c.584-97_584-96del	NP_690043.1:n.584-97_584-96del
NM_001382700.1:c.1739-97_1739-96del	NP_001369629.1:n.1739-97_1739-96del
NM_001382701.1:c.1454-97_1454-96del	NP_001369630.1:n.1454-97_1454-96del
NM_001382702.1:c.236-97_236-96del	NP_001369631.1:n.236-97_236-96del
NR_168483.1:n.606-19_606-18del