Canonical Allele Identifier: CA2639237604

Gene: ACE

Linked Data

• gnomAD v4: 17-63478100-TGGGCTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63478110_63478116del , CM000679.2:g.63478110_63478116del	GRCh38
NC_000017.10:g.61555471_61555477del , CM000679.1:g.61555471_61555477del	GRCh37
NC_000017.9:g.58909203_58909209del	NCBI36
NG_011648.1:g.6038_6044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.417+12_417+18del MANE Select	ENSP00000290866.4:n.417+12_417+18del
ENST00000290866.9:c.417+12_417+18del	ENSP00000290866.4:n.417+12_417+18del
ENST00000428043.5:c.417+12_417+18del	ENSP00000397593.2:n.417+12_417+18del
ENST00000579462.1:n.454_460del
ENST00000580318.1:n.606+12_606+18del
ENST00000582627.1:c.417+12_417+18del	ENSP00000462280.1:n.417+12_417+18del
ENST00000582678.5:c.417+12_417+18del	ENSP00000462995.1:n.417+12_417+18del
ENST00000583336.5:n.451+12_451+18del
ENST00000584529.5:n.451+12_451+18del
NM_000789.3:c.417+12_417+18del	NP_000780.1:n.417+12_417+18del
XM_005257110.1:c.-39+12_-39+18del	XP_005257167.1:n.-39+12_-39+18del
NM_000789.4:c.417+12_417+18del MANE Select	NP_000780.1:n.417+12_417+18del
NM_001382700.1:c.182+12_182+18del	NP_001369629.1:n.182+12_182+18del
NM_001382701.1:c.-198+12_-198+18del	NP_001369630.1:n.-198+12_-198+18del