Canonical Allele Identifier: CA627148159

Gene: ACE

Linked Data

• dbSNP Id: rs1555670379
• gnomAD v2: 17-61565912-TTCGCCAA-T
• gnomAD v3: 17-63488551-TTCGCCAA-T
• gnomAD v4: 17-63488551-TTCGCCAA-T
• MyVariant Identifiers: chr17:g.61565913_61565919del (hg19) ; chr17:g.63488552_63488558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488553_63488559del , CM000679.2:g.63488553_63488559del	GRCh38
NC_000017.10:g.61565914_61565920del , CM000679.1:g.61565914_61565920del	GRCh37
NC_000017.9:g.58919646_58919652del	NCBI36
NG_011648.1:g.16481_16487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-95_2306-89del MANE Select	ENSP00000290866.4:n.2306-95_2306-89del
ENST00000290863.10:c.584-95_584-89del	ENSP00000290863.6:n.584-95_584-89del
ENST00000290866.9:c.2306-95_2306-89del	ENSP00000290866.4:n.2306-95_2306-89del
ENST00000413513.7:c.584-95_584-89del	ENSP00000392247.3:n.584-95_584-89del
ENST00000428043.5:c.2306-95_2306-89del	ENSP00000397593.2:n.2306-95_2306-89del
ENST00000577647.2:c.584-95_584-89del	ENSP00000464149.1:n.584-95_584-89del
ENST00000578839.5:c.*376-95_*376-89del	ENSP00000462110.2:n.*376-95_*376-89del
ENST00000579204.1:c.487-17_487-11del	ENSP00000464629.1:n.487-17_487-11del
ENST00000579314.5:c.584-17_584-11del	ENSP00000462599.1:n.584-17_584-11del
ENST00000582005.5:c.*226-95_*226-89del	ENSP00000462002.1:n.*226-95_*226-89del
ENST00000582761.1:c.74-95_74-89del	ENSP00000462909.1:n.74-95_74-89del
ENST00000584865.5:n.252-95_252-89del
NM_000789.3:c.2306-95_2306-89del	NP_000780.1:n.2306-95_2306-89del
NM_001178057.1:c.584-95_584-89del	NP_001171528.1:n.584-95_584-89del
NM_152830.2:c.584-95_584-89del	NP_690043.1:n.584-95_584-89del
XM_005257110.1:c.1757-95_1757-89del	XP_005257167.1:n.1757-95_1757-89del
XM_006721737.2:c.644-95_644-89del	XP_006721800.2:n.644-95_644-89del
XM_006721737.3:c.644-95_644-89del	XP_006721800.2:n.644-95_644-89del
NM_000789.4:c.2306-95_2306-89del MANE Select	NP_000780.1:n.2306-95_2306-89del
NM_001178057.2:c.584-95_584-89del	NP_001171528.1:n.584-95_584-89del
NM_152830.3:c.584-95_584-89del	NP_690043.1:n.584-95_584-89del
NM_001382700.1:c.1739-95_1739-89del	NP_001369629.1:n.1739-95_1739-89del
NM_001382701.1:c.1454-95_1454-89del	NP_001369630.1:n.1454-95_1454-89del
NM_001382702.1:c.236-95_236-89del	NP_001369631.1:n.236-95_236-89del
NR_168483.1:n.606-17_606-11del