Canonical Allele Identifier: CA2639237421

Gene: ACE

Linked Data

• gnomAD v4: 17-63477600-G-GTGGTGCGTGCACCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477600_63477601insTGGTGCGTGCACCTA , CM000679.2:g.63477600_63477601insTGGTGCGTGCACCTA	GRCh38
NC_000017.10:g.61554961_61554962insTGGTGCGTGCACCTA , CM000679.1:g.61554961_61554962insTGGTGCGTGCACCTA	GRCh37
NC_000017.9:g.58908693_58908694insTGGTGCGTGCACCTA	NCBI36
NG_011648.1:g.5528_5529insTGGTGCGTGCACCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.249+257_249+258insTGGTGCGTGCACCTA MANE Select	ENSP00000290866.4:n.249+257_249+258insTGGTGCGTGCACCTA
ENST00000290866.9:c.249+257_249+258insTGGTGCGTGCACCTA	ENSP00000290866.4:n.249+257_249+258insTGGTGCGTGCACCTA
ENST00000428043.5:c.249+257_249+258insTGGTGCGTGCACCTA	ENSP00000397593.2:n.249+257_249+258insTGGTGCGTGCACCTA
ENST00000579462.1:n.274+257_274+258insTGGTGCGTGCACCTA
ENST00000580318.1:n.108_109insTGGTGCGTGCACCTA
ENST00000582627.1:c.59_60insTGGTGCGTGCACCTA	ENSP00000462280.1:p.Gly20_Ser21insGlyAlaCysThrTyr
ENST00000582678.5:c.249+257_249+258insTGGTGCGTGCACCTA	ENSP00000462995.1:n.249+257_249+258insTGGTGCGTGCACCTA
ENST00000583336.5:n.283+257_283+258insTGGTGCGTGCACCTA
ENST00000584529.5:n.283+257_283+258insTGGTGCGTGCACCTA
NM_000789.3:c.249+257_249+258insTGGTGCGTGCACCTA	NP_000780.1:n.249+257_249+258insTGGTGCGTGCACCTA
XM_005257110.1:c.-207+257_-207+258insTGGTGCGTGCACCTA	XP_005257167.1:n.-207+257_-207+258insTGGTGCGTGCACCTA
NM_000789.4:c.249+257_249+258insTGGTGCGTGCACCTA MANE Select	NP_000780.1:n.249+257_249+258insTGGTGCGTGCACCTA
NM_001382700.1:c.14+257_14+258insTGGTGCGTGCACCTA	NP_001369629.1:n.14+257_14+258insTGGTGCGTGCACCTA
NM_001382701.1:c.-366+257_-366+258insTGGTGCGTGCACCTA	NP_001369630.1:n.-366+257_-366+258insTGGTGCGTGCACCTA