Canonical Allele Identifier: CA627148095

Gene: ACE

Linked Data

• dbSNP Id: rs561946751
• gnomAD v2: 17-61565721-G-GA
• gnomAD v3: 17-63488360-G-GA
• gnomAD v4: 17-63488360-G-GA
• MyVariant Identifiers: chr17:g.61565725_61565726insA (hg19) ; chr17:g.61565721_61565722insA (hg19) ; chr17:g.63488364_63488365insA (hg38) ; chr17:g.63488360_63488361insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488381dup , CM000679.2:g.63488381dup	GRCh38
NC_000017.10:g.61565742dup , CM000679.1:g.61565742dup	GRCh37
NC_000017.9:g.58919474dup	NCBI36
NG_011648.1:g.16309dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-267dup MANE Select	ENSP00000290866.4:n.2306-267dup
ENST00000290863.10:c.584-267dup	ENSP00000290863.6:n.584-267dup
ENST00000290866.9:c.2306-267dup	ENSP00000290866.4:n.2306-267dup
ENST00000413513.7:c.584-267dup	ENSP00000392247.3:n.584-267dup
ENST00000428043.5:c.2306-267dup	ENSP00000397593.2:n.2306-267dup
ENST00000577647.2:c.584-267dup	ENSP00000464149.1:n.584-267dup
ENST00000578839.5:c.*376-267dup	ENSP00000462110.2:n.*376-267dup
ENST00000579204.1:c.487-189dup	ENSP00000464629.1:n.487-189dup
ENST00000579314.5:c.584-189dup	ENSP00000462599.1:n.584-189dup
ENST00000582005.5:c.*226-267dup	ENSP00000462002.1:n.*226-267dup
ENST00000582761.1:c.74-267dup	ENSP00000462909.1:n.74-267dup
ENST00000584865.5:n.252-267dup
NM_000789.3:c.2306-267dup	NP_000780.1:n.2306-267dup
NM_001178057.1:c.584-267dup	NP_001171528.1:n.584-267dup
NM_152830.2:c.584-267dup	NP_690043.1:n.584-267dup
XM_005257110.1:c.1757-267dup	XP_005257167.1:n.1757-267dup
XM_006721737.2:c.644-267dup	XP_006721800.2:n.644-267dup
XM_006721737.3:c.644-267dup	XP_006721800.2:n.644-267dup
NM_000789.4:c.2306-267dup MANE Select	NP_000780.1:n.2306-267dup
NM_001178057.2:c.584-267dup	NP_001171528.1:n.584-267dup
NM_152830.3:c.584-267dup	NP_690043.1:n.584-267dup
NM_001382700.1:c.1739-267dup	NP_001369629.1:n.1739-267dup
NM_001382701.1:c.1454-267dup	NP_001369630.1:n.1454-267dup
NM_001382702.1:c.236-267dup	NP_001369631.1:n.236-267dup
NR_168483.1:n.606-189dup