Canonical Allele Identifier: CA626840118

Gene: ACE

Linked Data

• dbSNP Id: rs1366295968
• gnomAD v2: 17-61558135-GCCCTGGGT-G
• gnomAD v3: 17-63480774-GCCCTGGGT-G
• gnomAD v4: 17-63480774-GCCCTGGGT-G
• MyVariant Identifiers: chr17:g.61558136_61558143del (hg19) ; chr17:g.63480775_63480782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63480777_63480784del , CM000679.2:g.63480777_63480784del	GRCh38
NC_000017.10:g.61558138_61558145del , CM000679.1:g.61558138_61558145del	GRCh37
NC_000017.9:g.58911870_58911877del	NCBI36
NG_011648.1:g.8705_8712del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.847+249_847+256del MANE Select	ENSP00000290866.4:n.847+249_847+256del
ENST00000290866.9:c.847+249_847+256del	ENSP00000290866.4:n.847+249_847+256del
ENST00000428043.5:c.847+249_847+256del	ENSP00000397593.2:n.847+249_847+256del
ENST00000582627.1:c.847+249_847+256del	ENSP00000462280.1:n.847+249_847+256del
ENST00000582678.5:c.*246+249_*246+256del	ENSP00000462995.1:n.*246+249_*246+256del
ENST00000584529.5:n.881+249_881+256del
NM_000789.3:c.847+249_847+256del	NP_000780.1:n.847+249_847+256del
XM_005257110.1:c.298+249_298+256del	XP_005257167.1:n.298+249_298+256del
NM_000789.4:c.847+249_847+256del MANE Select	NP_000780.1:n.847+249_847+256del
NM_001382700.1:c.374+249_374+256del	NP_001369629.1:n.374+249_374+256del
NM_001382701.1:c.-6+249_-6+256del	NP_001369630.1:n.-6+249_-6+256del