Canonical Allele Identifier: CA773987929

Gene: ACE

Linked Data

• dbSNP Id: rs1245808974
• gnomAD v4: 17-63477131-CTGCTGCCGCTGCCGCTGCTGT-C
• MyVariant Identifiers: chr17:g.61554493_61554513del (hg19) ; chr17:g.63477132_63477152del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477138_63477158del , CM000679.2:g.63477138_63477158del	GRCh38
NC_000017.10:g.61554499_61554519del , CM000679.1:g.61554499_61554519del	GRCh37
NC_000017.9:g.58908231_58908251del	NCBI36
NG_011648.1:g.5066_5086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.44_64del MANE Select	ENSP00000290866.4:p.Pro15_Leu21del
ENST00000290866.9:c.44_64del	ENSP00000290866.4:p.Pro15_Leu21del
ENST00000428043.5:c.44_64del	ENSP00000397593.2:p.Pro15_Leu21del
ENST00000579462.1:n.69_89del
ENST00000582678.5:c.44_64del	ENSP00000462995.1:p.Pro15_Leu21del
ENST00000583336.5:n.78_98del
ENST00000584529.5:n.78_98del
NM_000789.3:c.44_64del	NP_000780.1:p.Pro15_Leu21del
XM_005257110.1:c.-412_-392del	XP_005257167.1:n.-412_-392del
NM_000789.4:c.44_64del MANE Select	NP_000780.1:p.Pro15_Leu21del
NM_001382700.1:c.-192_-172del	NP_001369629.1:n.-192_-172del
NM_001382701.1:c.-571_-551del	NP_001369630.1:n.-571_-551del