Canonical Allele Identifier: CA985411399

Gene: ACE

Linked Data

• gnomAD v3: 17-63488543-T-TTTTTTTTTTTTTGAGACGG
• gnomAD v4: 17-63488543-T-TTTTTTTTTTTTTGAGACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488543_63488544insTTTTTTTTTTTTGAGACGG , CM000679.2:g.63488543_63488544insTTTTTTTTTTTTGAGACGG	GRCh38
NC_000017.10:g.61565904_61565905insTTTTTTTTTTTTGAGACGG , CM000679.1:g.61565904_61565905insTTTTTTTTTTTTGAGACGG	GRCh37
NC_000017.9:g.58919636_58919637insTTTTTTTTTTTTGAGACGG	NCBI36
NG_011648.1:g.16471_16472insTTTTTTTTTTTTGAGACGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG MANE Select	ENSP00000290866.4:n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG
ENST00000290863.10:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	ENSP00000290863.6:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
ENST00000290866.9:c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG	ENSP00000290866.4:n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG
ENST00000413513.7:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	ENSP00000392247.3:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
ENST00000428043.5:c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG	ENSP00000397593.2:n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG
ENST00000577647.2:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	ENSP00000464149.1:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
ENST00000578839.5:c.*376-105_*376-104insTTTTTTTTTTTTGAGACGG	ENSP00000462110.2:n.*376-105_*376-104insTTTTTTTTTTTTGAGACGG
ENST00000579204.1:c.487-27_487-26insTTTTTTTTTTTTGAGACGG	ENSP00000464629.1:n.487-27_487-26insTTTTTTTTTTTTGAGACGG
ENST00000579314.5:c.584-27_584-26insTTTTTTTTTTTTGAGACGG	ENSP00000462599.1:n.584-27_584-26insTTTTTTTTTTTTGAGACGG
ENST00000582005.5:c.*226-105_*226-104insTTTTTTTTTTTTGAGACGG	ENSP00000462002.1:n.*226-105_*226-104insTTTTTTTTTTTTGAGACGG
ENST00000582761.1:c.74-105_74-104insTTTTTTTTTTTTGAGACGG	ENSP00000462909.1:n.74-105_74-104insTTTTTTTTTTTTGAGACGG
ENST00000584865.5:n.252-105_252-104insTTTTTTTTTTTTGAGACGG
NM_000789.3:c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG	NP_000780.1:n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG
NM_001178057.1:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	NP_001171528.1:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
NM_152830.2:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	NP_690043.1:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
XM_005257110.1:c.1757-105_1757-104insTTTTTTTTTTTTGAGACGG	XP_005257167.1:n.1757-105_1757-104insTTTTTTTTTTTTGAGACGG
XM_006721737.2:c.644-105_644-104insTTTTTTTTTTTTGAGACGG	XP_006721800.2:n.644-105_644-104insTTTTTTTTTTTTGAGACGG
XM_006721737.3:c.644-105_644-104insTTTTTTTTTTTTGAGACGG	XP_006721800.2:n.644-105_644-104insTTTTTTTTTTTTGAGACGG
NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTTGAGACGG MANE Select	NP_000780.1:n.2306-105_2306-104insTTTTTTTTTTTTGAGACGG
NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	NP_001171528.1:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
NM_152830.3:c.584-105_584-104insTTTTTTTTTTTTGAGACGG	NP_690043.1:n.584-105_584-104insTTTTTTTTTTTTGAGACGG
NM_001382700.1:c.1739-105_1739-104insTTTTTTTTTTTTGAGACGG	NP_001369629.1:n.1739-105_1739-104insTTTTTTTTTTTTGAGACGG
NM_001382701.1:c.1454-105_1454-104insTTTTTTTTTTTTGAGACGG	NP_001369630.1:n.1454-105_1454-104insTTTTTTTTTTTTGAGACGG
NM_001382702.1:c.236-105_236-104insTTTTTTTTTTTTGAGACGG	NP_001369631.1:n.236-105_236-104insTTTTTTTTTTTTGAGACGG
NR_168483.1:n.606-27_606-26insTTTTTTTTTTTTGAGACGG