Canonical Allele Identifier: CA292870253

Gene: ACE

Linked Data

• ClinVar Variation Id: 1219086
• ClinVar RCV Id: RCV001594282 ; RCV002495957 ; RCV003336423
• dbSNP Id: rs983649759
• gnomAD v2: 17-61554489-CTGCTGCTGCCGCTGCCGCTGCTGT-C
• gnomAD v3: 17-63477128-CTGCTGCTGCCGCTGCCGCTGCTGT-C
• gnomAD v4: 17-63477128-CTGCTGCTGCCGCTGCCGCTGCTGT-C
• MyVariant Identifiers: chr17:g.61554490_61554513del (hg19) ; chr17:g.63477129_63477152del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477141_63477164del , CM000679.2:g.63477141_63477164del	GRCh38
NC_000017.10:g.61554502_61554525del , CM000679.1:g.61554502_61554525del	GRCh37
NC_000017.9:g.58908234_58908257del	NCBI36
NG_011648.1:g.5069_5092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.47_70del MANE Select	ENSP00000290866.4:p.Leu16_Pro23del
ENST00000290866.9:c.47_70del	ENSP00000290866.4:p.Leu16_Pro23del
ENST00000428043.5:c.47_70del	ENSP00000397593.2:p.Leu16_Pro23del
ENST00000579462.1:n.72_95del
ENST00000582678.5:c.47_70del	ENSP00000462995.1:p.Leu16_Pro23del
ENST00000583336.5:n.81_104del
ENST00000584529.5:n.81_104del
NM_000789.3:c.47_70del	NP_000780.1:p.Leu16_Pro23del
XM_005257110.1:c.-409_-386del	XP_005257167.1:n.-409_-386del
NM_000789.4:c.47_70del MANE Select	NP_000780.1:p.Leu16_Pro23del
NM_001382700.1:c.-189_-166del	NP_001369629.1:n.-189_-166del
NM_001382701.1:c.-568_-545del	NP_001369630.1:n.-568_-545del