Canonical Allele Identifier: CA2639243020

Gene: ACE

Linked Data

• gnomAD v4: 17-63496988-ACCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496989_63496993del , CM000679.2:g.63496989_63496993del	GRCh38
NC_000017.10:g.61574350_61574354del , CM000679.1:g.61574350_61574354del	GRCh37
NC_000017.9:g.58928082_58928086del	NCBI36
NG_011648.1:g.24917_24921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3691+4_3691+8del MANE Select	ENSP00000290866.4:n.3691+4_3691+8del
ENST00000290863.10:c.1969+4_1969+8del	ENSP00000290863.6:n.1969+4_1969+8del
ENST00000290866.9:c.3691+4_3691+8del	ENSP00000290866.4:n.3691+4_3691+8del
ENST00000413513.7:c.1846+4_1846+8del	ENSP00000392247.3:n.1846+4_1846+8del
ENST00000428043.5:c.3695_3699del	ENSP00000397593.2:p.Thr1232AsnfsTer?
ENST00000577418.5:n.701+4_701+8del
ENST00000577647.2:c.1969+4_1969+8del	ENSP00000464149.1:n.1969+4_1969+8del
ENST00000578839.5:c.*1446+4_*1446+8del	ENSP00000462110.2:n.*1446+4_*1446+8del
ENST00000579314.5:c.*1420+4_*1420+8del	ENSP00000462599.1:n.*1420+4_*1420+8del
ENST00000579409.1:c.382_386del
NM_000789.3:c.3691+4_3691+8del	NP_000780.1:n.3691+4_3691+8del
NM_001178057.1:c.1846+4_1846+8del	NP_001171528.1:n.1846+4_1846+8del
NM_152830.2:c.1969+4_1969+8del	NP_690043.1:n.1969+4_1969+8del
XM_005257110.1:c.3142+4_3142+8del	XP_005257167.1:n.3142+4_3142+8del
XM_006721737.2:c.2029+4_2029+8del	XP_006721800.2:n.2029+4_2029+8del
XM_006721737.3:c.2029+4_2029+8del	XP_006721800.2:n.2029+4_2029+8del
NM_000789.4:c.3691+4_3691+8del MANE Select	NP_000780.1:n.3691+4_3691+8del
NM_001178057.2:c.1846+4_1846+8del	NP_001171528.1:n.1846+4_1846+8del
NM_152830.3:c.1969+4_1969+8del	NP_690043.1:n.1969+4_1969+8del
NM_001382700.1:c.3124+4_3124+8del	NP_001369629.1:n.3124+4_3124+8del
NM_001382701.1:c.2839+4_2839+8del	NP_001369630.1:n.2839+4_2839+8del
NM_001382702.1:c.1306+4_1306+8del	NP_001369631.1:n.1306+4_1306+8del
NR_168483.1:n.2069+4_2069+8del