Canonical Allele Identifier: CA2639263649

Gene: ACE

Linked Data

• gnomAD v4: 17-63488545-T-TTTTTTTTTTTTGAGACGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488545_63488546insTTTTTTTTTTTGAGACGGA , CM000679.2:g.63488545_63488546insTTTTTTTTTTTGAGACGGA	GRCh38
NC_000017.10:g.61565906_61565907insTTTTTTTTTTTGAGACGGA , CM000679.1:g.61565906_61565907insTTTTTTTTTTTGAGACGGA	GRCh37
NC_000017.9:g.58919638_58919639insTTTTTTTTTTTGAGACGGA	NCBI36
NG_011648.1:g.16473_16474insTTTTTTTTTTTGAGACGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA MANE Select	ENSP00000290866.4:n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA
ENST00000290863.10:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	ENSP00000290863.6:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
ENST00000290866.9:c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA	ENSP00000290866.4:n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA
ENST00000413513.7:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	ENSP00000392247.3:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
ENST00000428043.5:c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA	ENSP00000397593.2:n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA
ENST00000577647.2:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	ENSP00000464149.1:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
ENST00000578839.5:c.*376-103_*376-102insTTTTTTTTTTTGAGACGGA	ENSP00000462110.2:n.*376-103_*376-102insTTTTTTTTTTTGAGACGGA
ENST00000579204.1:c.487-25_487-24insTTTTTTTTTTTGAGACGGA	ENSP00000464629.1:n.487-25_487-24insTTTTTTTTTTTGAGACGGA
ENST00000579314.5:c.584-25_584-24insTTTTTTTTTTTGAGACGGA	ENSP00000462599.1:n.584-25_584-24insTTTTTTTTTTTGAGACGGA
ENST00000582005.5:c.*226-103_*226-102insTTTTTTTTTTTGAGACGGA	ENSP00000462002.1:n.*226-103_*226-102insTTTTTTTTTTTGAGACGGA
ENST00000582761.1:c.74-103_74-102insTTTTTTTTTTTGAGACGGA	ENSP00000462909.1:n.74-103_74-102insTTTTTTTTTTTGAGACGGA
ENST00000584865.5:n.252-103_252-102insTTTTTTTTTTTGAGACGGA
NM_000789.3:c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA	NP_000780.1:n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA
NM_001178057.1:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	NP_001171528.1:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
NM_152830.2:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	NP_690043.1:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
XM_005257110.1:c.1757-103_1757-102insTTTTTTTTTTTGAGACGGA	XP_005257167.1:n.1757-103_1757-102insTTTTTTTTTTTGAGACGGA
XM_006721737.2:c.644-103_644-102insTTTTTTTTTTTGAGACGGA	XP_006721800.2:n.644-103_644-102insTTTTTTTTTTTGAGACGGA
XM_006721737.3:c.644-103_644-102insTTTTTTTTTTTGAGACGGA	XP_006721800.2:n.644-103_644-102insTTTTTTTTTTTGAGACGGA
NM_000789.4:c.2306-103_2306-102insTTTTTTTTTTTGAGACGGA MANE Select	NP_000780.1:n.2306-103_2306-102insTTTTTTTTTTTGAGACGGA
NM_001178057.2:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	NP_001171528.1:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
NM_152830.3:c.584-103_584-102insTTTTTTTTTTTGAGACGGA	NP_690043.1:n.584-103_584-102insTTTTTTTTTTTGAGACGGA
NM_001382700.1:c.1739-103_1739-102insTTTTTTTTTTTGAGACGGA	NP_001369629.1:n.1739-103_1739-102insTTTTTTTTTTTGAGACGGA
NM_001382701.1:c.1454-103_1454-102insTTTTTTTTTTTGAGACGGA	NP_001369630.1:n.1454-103_1454-102insTTTTTTTTTTTGAGACGGA
NM_001382702.1:c.236-103_236-102insTTTTTTTTTTTGAGACGGA	NP_001369631.1:n.236-103_236-102insTTTTTTTTTTTGAGACGGA
NR_168483.1:n.606-25_606-24insTTTTTTTTTTTGAGACGGA