Canonical Allele Identifier: CA2269945946

Gene: ACE

Linked Data

• dbSNP Id: rs2030155032
• gnomAD v4: 17-63488689-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488689_63488690insA , CM000679.2:g.63488689_63488690insA	GRCh38
NC_000017.10:g.61566050_61566051insA , CM000679.1:g.61566050_61566051insA	GRCh37
NC_000017.9:g.58919782_58919783insA	NCBI36
NG_011648.1:g.16617_16618insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2347_2348insA MANE Select	ENSP00000290866.4:p.Leu783HisfsTer?
ENST00000290863.10:c.625_626insA	ENSP00000290863.6:p.Leu209HisfsTer?
ENST00000290866.9:c.2347_2348insA	ENSP00000290866.4:p.Leu783HisfsTer?
ENST00000413513.7:c.625_626insA	ENSP00000392247.3:p.Leu209HisfsTer?
ENST00000428043.5:c.2347_2348insA	ENSP00000397593.2:p.Leu783HisfsTer?
ENST00000577647.2:c.625_626insA	ENSP00000464149.1:p.Leu209HisfsTer?
ENST00000578839.5:c.*417_*418insA	ENSP00000462110.2:n.*417_*418insA
ENST00000579204.1:c.606_607insA	ENSP00000464629.1:n.606_607insA
ENST00000579314.5:c.*76_*77insA	ENSP00000462599.1:n.*76_*77insA
ENST00000582005.5:c.*267_*268insA	ENSP00000462002.1:n.*267_*268insA
ENST00000582761.1:c.115_116insA	ENSP00000462909.1:p.Leu39HisfsTer?
ENST00000584865.5:n.293_294insA
NM_000789.3:c.2347_2348insA	NP_000780.1:p.Leu783HisfsTer?
NM_001178057.1:c.625_626insA	NP_001171528.1:p.Leu209HisfsTer?
NM_152830.2:c.625_626insA	NP_690043.1:p.Leu209HisfsTer?
XM_005257110.1:c.1798_1799insA	XP_005257167.1:p.Leu600HisfsTer?
XM_006721737.2:c.685_686insA	XP_006721800.2:p.Leu229HisfsTer?
XM_006721737.3:c.685_686insA	XP_006721800.2:p.Leu229HisfsTer?
NM_000789.4:c.2347_2348insA MANE Select	NP_000780.1:p.Leu783HisfsTer?
NM_001178057.2:c.625_626insA	NP_001171528.1:p.Leu209HisfsTer?
NM_152830.3:c.625_626insA	NP_690043.1:p.Leu209HisfsTer?
NM_001382700.1:c.1780_1781insA	NP_001369629.1:p.Leu594HisfsTer?
NM_001382701.1:c.1495_1496insA	NP_001369630.1:p.Leu499HisfsTer?
NM_001382702.1:c.277_278insA	NP_001369631.1:p.Leu93HisfsTer?
NR_168483.1:n.725_726insA