Canonical Allele Identifier: CA627147800

Gene: ACE

Linked Data

• dbSNP Id: rs1190879686
• gnomAD v2: 17-61554487-GGCTGCTGCTGCCGCTGCCGCTGCTGTT-G
• gnomAD v3: 17-63477126-GGCTGCTGCTGCCGCTGCCGCTGCTGTT-G
• gnomAD v4: 17-63477126-GGCTGCTGCTGCCGCTGCCGCTGCTGTT-G
• MyVariant Identifiers: chr17:g.61554488_61554514del (hg19) ; chr17:g.63477127_63477153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63477135_63477161del , CM000679.2:g.63477135_63477161del	GRCh38
NC_000017.10:g.61554496_61554522del , CM000679.1:g.61554496_61554522del	GRCh37
NC_000017.9:g.58908228_58908254del	NCBI36
NG_011648.1:g.5063_5089del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.41_67del MANE Select	ENSP00000290866.4:p.Leu14_Leu22del
ENST00000290866.9:c.41_67del	ENSP00000290866.4:p.Leu14_Leu22del
ENST00000428043.5:c.41_67del	ENSP00000397593.2:p.Leu14_Leu22del
ENST00000579462.1:n.66_92del
ENST00000582678.5:c.41_67del	ENSP00000462995.1:p.Leu14_Leu22del
ENST00000583336.5:n.75_101del
ENST00000584529.5:n.75_101del
NM_000789.3:c.41_67del	NP_000780.1:p.Leu14_Leu22del
XM_005257110.1:c.-415_-389del	XP_005257167.1:n.-415_-389del
NM_000789.4:c.41_67del MANE Select	NP_000780.1:p.Leu14_Leu22del
NM_001382700.1:c.-195_-169del	NP_001369629.1:n.-195_-169del
NM_001382701.1:c.-574_-548del	NP_001369630.1:n.-574_-548del