Canonical Allele Identifier: CA627148148

Gene: ACE

Linked Data

• dbSNP Id: rs2030134650
• gnomAD v2: 17-61565908-T-TCGCCCAGGCTGGAGTGCAGTGGC
• gnomAD v3: 17-63488547-T-TCGCCCAGGCTGGAGTGCAGTGGC
• gnomAD v4: 17-63488547-T-TCGCCCAGGCTGGAGTGCAGTGGC
• MyVariant Identifiers: chr17:g.61565909_61565910delinsCGCCCAGGCTGGAGTGCAGTGGCGG (hg19) ; chr17:g.63488548_63488549delinsCGCCCAGGCTGGAGTGCAGTGGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGC , CM000679.2:g.63488547_63488548insCGCCCAGGCTGGAGTGCAGTGGC	GRCh38
NC_000017.10:g.61565908_61565909insCGCCCAGGCTGGAGTGCAGTGGC , CM000679.1:g.61565908_61565909insCGCCCAGGCTGGAGTGCAGTGGC	GRCh37
NC_000017.9:g.58919640_58919641insCGCCCAGGCTGGAGTGCAGTGGC	NCBI36
NG_011648.1:g.16475_16476insCGCCCAGGCTGGAGTGCAGTGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC MANE Select	ENSP00000290866.4:n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTG...
ENST00000290863.10:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000290863.6:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC...
ENST00000290866.9:c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000290866.4:n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTG...
ENST00000413513.7:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000392247.3:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC...
ENST00000428043.5:c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000397593.2:n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTG...
ENST00000577647.2:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000464149.1:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC...
ENST00000578839.5:c.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000462110.2:n.*376-101_*376-100insCGCCCAGGCTGGAGTGCAGTG...
ENST00000579204.1:c.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000464629.1:n.487-23_487-22insCGCCCAGGCTGGAGTGCAGTGGC
ENST00000579314.5:c.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000462599.1:n.584-23_584-22insCGCCCAGGCTGGAGTGCAGTGGC
ENST00000582005.5:c.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000462002.1:n.*226-101_*226-100insCGCCCAGGCTGGAGTGCAGTG...
ENST00000582761.1:c.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC	ENSP00000462909.1:n.74-101_74-100insCGCCCAGGCTGGAGTGCAGTGGC
ENST00000584865.5:n.252-101_252-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_000789.3:c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_000780.1:n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_001178057.1:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_001171528.1:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_152830.2:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_690043.1:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC
XM_005257110.1:c.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC	XP_005257167.1:n.1757-101_1757-100insCGCCCAGGCTGGAGTGCAGTGGC
XM_006721737.2:c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC	XP_006721800.2:n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC
XM_006721737.3:c.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC	XP_006721800.2:n.644-101_644-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_000789.4:c.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC MANE Select	NP_000780.1:n.2306-101_2306-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_001178057.2:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_001171528.1:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_152830.3:c.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_690043.1:n.584-101_584-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_001382700.1:c.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_001369629.1:n.1739-101_1739-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_001382701.1:c.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_001369630.1:n.1454-101_1454-100insCGCCCAGGCTGGAGTGCAGTGGC
NM_001382702.1:c.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC	NP_001369631.1:n.236-101_236-100insCGCCCAGGCTGGAGTGCAGTGGC
NR_168483.1:n.606-23_606-22insCGCCCAGGCTGGAGTGCAGTGGC