Canonical Allele Identifier: CA2596708450

Gene: ACE

Linked Data

• gnomAD v3: 17-63488554-G-GCTCTGTCGCC
• gnomAD v4: 17-63488554-G-GCTCTGTCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488555_63488556insTCTGTCGCCC , CM000679.2:g.63488555_63488556insTCTGTCGCCC	GRCh38
NC_000017.10:g.61565916_61565917insTCTGTCGCCC , CM000679.1:g.61565916_61565917insTCTGTCGCCC	GRCh37
NC_000017.9:g.58919648_58919649insTCTGTCGCCC	NCBI36
NG_011648.1:g.16483_16484insTCTGTCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2306-93_2306-92insTCTGTCGCCC MANE Select	ENSP00000290866.4:n.2306-93_2306-92insTCTGTCGCCC
ENST00000290863.10:c.584-93_584-92insTCTGTCGCCC	ENSP00000290863.6:n.584-93_584-92insTCTGTCGCCC
ENST00000290866.9:c.2306-93_2306-92insTCTGTCGCCC	ENSP00000290866.4:n.2306-93_2306-92insTCTGTCGCCC
ENST00000413513.7:c.584-93_584-92insTCTGTCGCCC	ENSP00000392247.3:n.584-93_584-92insTCTGTCGCCC
ENST00000428043.5:c.2306-93_2306-92insTCTGTCGCCC	ENSP00000397593.2:n.2306-93_2306-92insTCTGTCGCCC
ENST00000577647.2:c.584-93_584-92insTCTGTCGCCC	ENSP00000464149.1:n.584-93_584-92insTCTGTCGCCC
ENST00000578839.5:c.*376-93_*376-92insTCTGTCGCCC	ENSP00000462110.2:n.*376-93_*376-92insTCTGTCGCCC
ENST00000579204.1:c.487-15_487-14insTCTGTCGCCC	ENSP00000464629.1:n.487-15_487-14insTCTGTCGCCC
ENST00000579314.5:c.584-15_584-14insTCTGTCGCCC	ENSP00000462599.1:n.584-15_584-14insTCTGTCGCCC
ENST00000582005.5:c.*226-93_*226-92insTCTGTCGCCC	ENSP00000462002.1:n.*226-93_*226-92insTCTGTCGCCC
ENST00000582761.1:c.74-93_74-92insTCTGTCGCCC	ENSP00000462909.1:n.74-93_74-92insTCTGTCGCCC
ENST00000584865.5:n.252-93_252-92insTCTGTCGCCC
NM_000789.3:c.2306-93_2306-92insTCTGTCGCCC	NP_000780.1:n.2306-93_2306-92insTCTGTCGCCC
NM_001178057.1:c.584-93_584-92insTCTGTCGCCC	NP_001171528.1:n.584-93_584-92insTCTGTCGCCC
NM_152830.2:c.584-93_584-92insTCTGTCGCCC	NP_690043.1:n.584-93_584-92insTCTGTCGCCC
XM_005257110.1:c.1757-93_1757-92insTCTGTCGCCC	XP_005257167.1:n.1757-93_1757-92insTCTGTCGCCC
XM_006721737.2:c.644-93_644-92insTCTGTCGCCC	XP_006721800.2:n.644-93_644-92insTCTGTCGCCC
XM_006721737.3:c.644-93_644-92insTCTGTCGCCC	XP_006721800.2:n.644-93_644-92insTCTGTCGCCC
NM_000789.4:c.2306-93_2306-92insTCTGTCGCCC MANE Select	NP_000780.1:n.2306-93_2306-92insTCTGTCGCCC
NM_001178057.2:c.584-93_584-92insTCTGTCGCCC	NP_001171528.1:n.584-93_584-92insTCTGTCGCCC
NM_152830.3:c.584-93_584-92insTCTGTCGCCC	NP_690043.1:n.584-93_584-92insTCTGTCGCCC
NM_001382700.1:c.1739-93_1739-92insTCTGTCGCCC	NP_001369629.1:n.1739-93_1739-92insTCTGTCGCCC
NM_001382701.1:c.1454-93_1454-92insTCTGTCGCCC	NP_001369630.1:n.1454-93_1454-92insTCTGTCGCCC
NM_001382702.1:c.236-93_236-92insTCTGTCGCCC	NP_001369631.1:n.236-93_236-92insTCTGTCGCCC
NR_168483.1:n.606-15_606-14insTCTGTCGCCC