Canonical Allele Identifier: CA8700112

Gene: ACE

Linked Data

• dbSNP Id: rs753957624
• ExAC: 17:61566256 G / GC
• gnomAD v2: 17-61566256-G-GC
• gnomAD v4: 17-63488895-G-GC
• MyVariant Identifiers: chr17:g.61566256_61566257insC (hg19) ; chr17:g.63488895_63488896insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488896dup , CM000679.2:g.63488896dup	GRCh38
NC_000017.10:g.61566257dup , CM000679.1:g.61566257dup	GRCh37
NC_000017.9:g.58919989dup	NCBI36
NG_011648.1:g.16824dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2450-45dup MANE Select	ENSP00000290866.4:n.2450-45dup
ENST00000290863.10:c.728-45dup	ENSP00000290863.6:n.728-45dup
ENST00000290866.9:c.2450-45dup	ENSP00000290866.4:n.2450-45dup
ENST00000413513.7:c.728-45dup	ENSP00000392247.3:n.728-45dup
ENST00000428043.5:c.2450-45dup	ENSP00000397593.2:n.2450-45dup
ENST00000577647.2:c.728-45dup	ENSP00000464149.1:n.728-45dup
ENST00000578839.5:c.*519+105dup	ENSP00000462110.2:n.*519+105dup
ENST00000579204.1:c.709-45dup	ENSP00000464629.1:n.709-45dup
ENST00000579314.5:c.*179-45dup	ENSP00000462599.1:n.*179-45dup
ENST00000582005.5:c.*370-45dup	ENSP00000462002.1:n.*370-45dup
ENST00000582761.1:c.218-45dup	ENSP00000462909.1:n.218-45dup
ENST00000584865.5:n.396-45dup
NM_000789.3:c.2450-45dup	NP_000780.1:n.2450-45dup
NM_001178057.1:c.728-45dup	NP_001171528.1:n.728-45dup
NM_152830.2:c.728-45dup	NP_690043.1:n.728-45dup
XM_005257110.1:c.1901-45dup	XP_005257167.1:n.1901-45dup
XM_006721737.2:c.788-45dup	XP_006721800.2:n.788-45dup
XM_006721737.3:c.788-45dup	XP_006721800.2:n.788-45dup
NM_000789.4:c.2450-45dup MANE Select	NP_000780.1:n.2450-45dup
NM_001178057.2:c.728-45dup	NP_001171528.1:n.728-45dup
NM_152830.3:c.728-45dup	NP_690043.1:n.728-45dup
NM_001382700.1:c.1883-45dup	NP_001369629.1:n.1883-45dup
NM_001382701.1:c.1598-45dup	NP_001369630.1:n.1598-45dup
NM_001382702.1:c.379+105dup	NP_001369631.1:n.379+105dup
NR_168483.1:n.828-45dup