Canonical Allele Identifier: CA2639237422

Gene: ACE

Linked Data

• gnomAD v4: 17-63477600-G-GTGGTGCGTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477600_63477601insTGGTGCGTGCA , CM000679.2:g.63477600_63477601insTGGTGCGTGCA	GRCh38
NC_000017.10:g.61554961_61554962insTGGTGCGTGCA , CM000679.1:g.61554961_61554962insTGGTGCGTGCA	GRCh37
NC_000017.9:g.58908693_58908694insTGGTGCGTGCA	NCBI36
NG_011648.1:g.5528_5529insTGGTGCGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+257_249+258insTGGTGCGTGCA MANE Select	ENSP00000290866.4:n.249+257_249+258insTGGTGCGTGCA
ENST00000290866.9:c.249+257_249+258insTGGTGCGTGCA	ENSP00000290866.4:n.249+257_249+258insTGGTGCGTGCA
ENST00000428043.5:c.249+257_249+258insTGGTGCGTGCA	ENSP00000397593.2:n.249+257_249+258insTGGTGCGTGCA
ENST00000579462.1:n.274+257_274+258insTGGTGCGTGCA
ENST00000580318.1:n.108_109insTGGTGCGTGCA
ENST00000582627.1:c.59_60insTGGTGCGTGCA	ENSP00000462280.1:p.Ser21GlyfsTer?
ENST00000582678.5:c.249+257_249+258insTGGTGCGTGCA	ENSP00000462995.1:n.249+257_249+258insTGGTGCGTGCA
ENST00000583336.5:n.283+257_283+258insTGGTGCGTGCA
ENST00000584529.5:n.283+257_283+258insTGGTGCGTGCA
NM_000789.3:c.249+257_249+258insTGGTGCGTGCA	NP_000780.1:n.249+257_249+258insTGGTGCGTGCA
XM_005257110.1:c.-207+257_-207+258insTGGTGCGTGCA	XP_005257167.1:n.-207+257_-207+258insTGGTGCGTGCA
NM_000789.4:c.249+257_249+258insTGGTGCGTGCA MANE Select	NP_000780.1:n.249+257_249+258insTGGTGCGTGCA
NM_001382700.1:c.14+257_14+258insTGGTGCGTGCA	NP_001369629.1:n.14+257_14+258insTGGTGCGTGCA
NM_001382701.1:c.-366+257_-366+258insTGGTGCGTGCA	NP_001369630.1:n.-366+257_-366+258insTGGTGCGTGCA