Canonical Allele Identifier: CA627147983

Gene: ACE

Linked Data

• dbSNP Id: rs1367232864
• gnomAD v2: 17-61574629-GGCCTCA-G
• MyVariant Identifiers: chr17:g.61574630_61574635del (hg19) ; chr17:g.63497269_63497274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497272_63497277del , CM000679.2:g.63497272_63497277del	GRCh38
NC_000017.10:g.61574633_61574638del , CM000679.1:g.61574633_61574638del	GRCh37
NC_000017.9:g.58928365_58928370del	NCBI36
NG_011648.1:g.25200_25205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3827_3832del MANE Select	ENSP00000290866.4:p.Leu1276_Ser1277del
ENST00000290863.10:c.2105_2110del	ENSP00000290863.6:p.Leu702_Ser703del
ENST00000290866.9:c.3827_3832del	ENSP00000290866.4:p.Leu1276_Ser1277del
ENST00000413513.7:c.1982_1987del	ENSP00000392247.3:p.Leu661_Ser662del
ENST00000428043.5:c.*249_*254del	ENSP00000397593.2:n.*249_*254del
ENST00000577647.2:c.1969+287_1969+292del	ENSP00000464149.1:n.1969+287_1969+292del
ENST00000578839.5:c.*1582_*1587del	ENSP00000462110.2:n.*1582_*1587del
ENST00000579314.5:c.*1556_*1561del	ENSP00000462599.1:n.*1556_*1561del
NM_000789.3:c.3827_3832del	NP_000780.1:p.Leu1276_Ser1277del
NM_001178057.1:c.1982_1987del	NP_001171528.1:p.Leu661_Ser662del
NM_152830.2:c.2105_2110del	NP_690043.1:p.Leu702_Ser703del
XM_005257110.1:c.3278_3283del	XP_005257167.1:p.Leu1093_Ser1094del
XM_006721737.2:c.2165_2170del	XP_006721800.2:p.Leu722_Ser723del
XM_006721737.3:c.2165_2170del	XP_006721800.2:p.Leu722_Ser723del
NM_000789.4:c.3827_3832del MANE Select	NP_000780.1:p.Leu1276_Ser1277del
NM_001178057.2:c.1982_1987del	NP_001171528.1:p.Leu661_Ser662del
NM_152830.3:c.2105_2110del	NP_690043.1:p.Leu702_Ser703del
NM_001382700.1:c.3260_3265del	NP_001369629.1:p.Leu1087_Ser1088del
NM_001382701.1:c.2975_2980del	NP_001369630.1:p.Leu992_Ser993del
NM_001382702.1:c.1442_1447del	NP_001369631.1:p.Leu481_Ser482del
NR_168483.1:n.2205_2210del