Canonical Allele Identifier: CA2639236644

Gene: ACE

Linked Data

• gnomAD v4: 17-63477119-GGGCCGGGGCTGCTGCTGCCGCTGCCGCTGCTGTTGCTGCTGCCGCCGCAGCCCGCCCTGGCGTTGGACCCCGGGCTGCAGCCCGGCAACTTTTCTGCTGACGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477129_63477231del , CM000679.2:g.63477129_63477231del	GRCh38
NC_000017.10:g.61554490_61554592del , CM000679.1:g.61554490_61554592del	GRCh37
NC_000017.9:g.58908222_58908324del	NCBI36
NG_011648.1:g.5057_5159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.35_137del MANE Select	ENSP00000290866.4:p.Leu12ArgfsTer?
ENST00000290866.9:c.35_137del	ENSP00000290866.4:p.Leu12ArgfsTer?
ENST00000428043.5:c.35_137del	ENSP00000397593.2:p.Leu12ArgfsTer?
ENST00000579462.1:n.60_162del
ENST00000582678.5:c.35_137del	ENSP00000462995.1:p.Leu12ArgfsTer?
ENST00000583336.5:n.69_171del
ENST00000584529.5:n.69_171del
NM_000789.3:c.35_137del	NP_000780.1:p.Leu12ArgfsTer?
XM_005257110.1:c.-421_-319del	XP_005257167.1:n.-421_-319del
NM_000789.4:c.35_137del MANE Select	NP_000780.1:p.Leu12ArgfsTer?
NM_001382700.1:c.-201_-99del	NP_001369629.1:n.-201_-99del
NM_001382701.1:c.-580_-478del	NP_001369630.1:n.-580_-478del