Canonical Allele Identifier: CA2639263690

Gene: ACE

Linked Data

• gnomAD v4: 17-63488597-AAGCAGAGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488601_63488610del , CM000679.2:g.63488601_63488610del	GRCh38
NC_000017.10:g.61565962_61565971del , CM000679.1:g.61565962_61565971del	GRCh37
NC_000017.9:g.58919694_58919703del	NCBI36
NG_011648.1:g.16529_16538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-47_2306-38del MANE Select	ENSP00000290866.4:n.2306-47_2306-38del
ENST00000290863.10:c.584-47_584-38del	ENSP00000290863.6:n.584-47_584-38del
ENST00000290866.9:c.2306-47_2306-38del	ENSP00000290866.4:n.2306-47_2306-38del
ENST00000413513.7:c.584-47_584-38del	ENSP00000392247.3:n.584-47_584-38del
ENST00000428043.5:c.2306-47_2306-38del	ENSP00000397593.2:n.2306-47_2306-38del
ENST00000577647.2:c.584-47_584-38del	ENSP00000464149.1:n.584-47_584-38del
ENST00000578839.5:c.*376-47_*376-38del	ENSP00000462110.2:n.*376-47_*376-38del
ENST00000579204.1:c.518_527del	ENSP00000464629.1:n.518_527del
ENST00000579314.5:c.615_624del	ENSP00000462599.1:p.Glu206LysfsTer14
ENST00000582005.5:c.*226-47_*226-38del	ENSP00000462002.1:n.*226-47_*226-38del
ENST00000582761.1:c.74-47_74-38del	ENSP00000462909.1:n.74-47_74-38del
ENST00000584865.5:n.252-47_252-38del
NM_000789.3:c.2306-47_2306-38del	NP_000780.1:n.2306-47_2306-38del
NM_001178057.1:c.584-47_584-38del	NP_001171528.1:n.584-47_584-38del
NM_152830.2:c.584-47_584-38del	NP_690043.1:n.584-47_584-38del
XM_005257110.1:c.1757-47_1757-38del	XP_005257167.1:n.1757-47_1757-38del
XM_006721737.2:c.644-47_644-38del	XP_006721800.2:n.644-47_644-38del
XM_006721737.3:c.644-47_644-38del	XP_006721800.2:n.644-47_644-38del
NM_000789.4:c.2306-47_2306-38del MANE Select	NP_000780.1:n.2306-47_2306-38del
NM_001178057.2:c.584-47_584-38del	NP_001171528.1:n.584-47_584-38del
NM_152830.3:c.584-47_584-38del	NP_690043.1:n.584-47_584-38del
NM_001382700.1:c.1739-47_1739-38del	NP_001369629.1:n.1739-47_1739-38del
NM_001382701.1:c.1454-47_1454-38del	NP_001369630.1:n.1454-47_1454-38del
NM_001382702.1:c.236-47_236-38del	NP_001369631.1:n.236-47_236-38del
NR_168483.1:n.637_646del