Canonical Allele Identifier: CA626844007

Gene: ACE

Linked Data

• dbSNP Id: rs1174219638
• gnomAD v2: 17-61564484-TG-T
• gnomAD v3: 17-63487123-TG-T
• gnomAD v4: 17-63487123-TG-T
• MyVariant Identifiers: chr17:g.61564485del (hg19) ; chr17:g.63487124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487127del , CM000679.2:g.63487127del	GRCh38
NC_000017.10:g.61564488del , CM000679.1:g.61564488del	GRCh37
NC_000017.9:g.58918220del	NCBI36
NG_011648.1:g.15055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2305+54del MANE Select	ENSP00000290866.4:n.2305+54del
ENST00000290863.10:c.583+54del	ENSP00000290863.6:n.583+54del
ENST00000290866.9:c.2305+54del	ENSP00000290866.4:n.2305+54del
ENST00000413513.7:c.583+54del	ENSP00000392247.3:n.583+54del
ENST00000428043.5:c.2305+54del	ENSP00000397593.2:n.2305+54del
ENST00000577647.2:c.583+54del	ENSP00000464149.1:n.583+54del
ENST00000578839.5:c.*375+54del	ENSP00000462110.2:n.*375+54del
ENST00000579204.1:c.486+54del	ENSP00000464629.1:n.486+54del
ENST00000579314.5:c.583+54del	ENSP00000462599.1:n.583+54del
ENST00000582005.5:c.*225+54del	ENSP00000462002.1:n.*225+54del
ENST00000582761.1:c.73+54del	ENSP00000462909.1:n.73+54del
ENST00000584865.5:n.251+54del
NM_000789.3:c.2305+54del	NP_000780.1:n.2305+54del
NM_001178057.1:c.583+54del	NP_001171528.1:n.583+54del
NM_152830.2:c.583+54del	NP_690043.1:n.583+54del
XM_005257110.1:c.1756+54del	XP_005257167.1:n.1756+54del
XM_006721737.2:c.643+54del	XP_006721800.2:n.643+54del
XM_006721737.3:c.643+54del	XP_006721800.2:n.643+54del
NM_000789.4:c.2305+54del MANE Select	NP_000780.1:n.2305+54del
NM_001178057.2:c.583+54del	NP_001171528.1:n.583+54del
NM_152830.3:c.583+54del	NP_690043.1:n.583+54del
NM_001382700.1:c.1738+54del	NP_001369629.1:n.1738+54del
NM_001382701.1:c.1453+54del	NP_001369630.1:n.1453+54del
NM_001382702.1:c.235+54del	NP_001369631.1:n.235+54del
NR_168483.1:n.605+54del