Canonical Allele Identifier: CA292890354

Gene: ACE

Linked Data

• dbSNP Id: rs200695691
• gnomAD v2: 17-61574446-TTGCCCTGCCC-T
• gnomAD v3: 17-63497085-TTGCCCTGCCC-T
• gnomAD v4: 17-63497085-TTGCCCTGCCC-T
• MyVariant Identifiers: chr17:g.61574447_61574456del (hg19) ; chr17:g.63497086_63497095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497101_63497110del , CM000679.2:g.63497101_63497110del	GRCh38
NC_000017.10:g.61574462_61574471del , CM000679.1:g.61574462_61574471del	GRCh37
NC_000017.9:g.58928194_58928203del	NCBI36
NG_011648.1:g.25029_25038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3692-36_3692-27del MANE Select	ENSP00000290866.4:n.3692-36_3692-27del
ENST00000290863.10:c.1970-36_1970-27del	ENSP00000290863.6:n.1970-36_1970-27del
ENST00000290866.9:c.3692-36_3692-27del	ENSP00000290866.4:n.3692-36_3692-27del
ENST00000413513.7:c.1847-36_1847-27del	ENSP00000392247.3:n.1847-36_1847-27del
ENST00000428043.5:c.*78_*87del	ENSP00000397593.2:n.*78_*87del
ENST00000577418.5:n.702-36_702-27del
ENST00000577647.2:c.1969+116_1969+125del	ENSP00000464149.1:n.1969+116_1969+125del
ENST00000578839.5:c.*1447-36_*1447-27del	ENSP00000462110.2:n.*1447-36_*1447-27del
ENST00000579314.5:c.*1421-36_*1421-27del	ENSP00000462599.1:n.*1421-36_*1421-27del
ENST00000579409.1:c.494_503del
NM_000789.3:c.3692-36_3692-27del	NP_000780.1:n.3692-36_3692-27del
NM_001178057.1:c.1847-36_1847-27del	NP_001171528.1:n.1847-36_1847-27del
NM_152830.2:c.1970-36_1970-27del	NP_690043.1:n.1970-36_1970-27del
XM_005257110.1:c.3143-36_3143-27del	XP_005257167.1:n.3143-36_3143-27del
XM_006721737.2:c.2030-36_2030-27del	XP_006721800.2:n.2030-36_2030-27del
XM_006721737.3:c.2030-36_2030-27del	XP_006721800.2:n.2030-36_2030-27del
NM_000789.4:c.3692-36_3692-27del MANE Select	NP_000780.1:n.3692-36_3692-27del
NM_001178057.2:c.1847-36_1847-27del	NP_001171528.1:n.1847-36_1847-27del
NM_152830.3:c.1970-36_1970-27del	NP_690043.1:n.1970-36_1970-27del
NM_001382700.1:c.3125-36_3125-27del	NP_001369629.1:n.3125-36_3125-27del
NM_001382701.1:c.2840-36_2840-27del	NP_001369630.1:n.2840-36_2840-27del
NM_001382702.1:c.1307-36_1307-27del	NP_001369631.1:n.1307-36_1307-27del
NR_168483.1:n.2070-36_2070-27del