Canonical Allele Identifier: CA2679815979

Gene: HACE1

Linked Data

• gnomAD v4: 6-104784295-GTTTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784299_104784303del , CM000668.2:g.104784299_104784303del	GRCh38
NC_000006.11:g.105232174_105232178del , CM000668.1:g.105232174_105232178del	GRCh37
NC_000006.10:g.105338867_105338871del	NCBI36
NG_046782.1:g.80620_80624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1478+117_1478+121del MANE Select	ENSP00000262903.4:n.1478+117_1478+121del
ENST00000262903.8:c.1478+117_1478+121del	ENSP00000262903.4:n.1478+117_1478+121del
ENST00000369125.6:c.1478+117_1478+121del	ENSP00000358121.2:n.1478+117_1478+121del
ENST00000369127.8:n.2499+117_2499+121del
ENST00000416605.6:c.*1035+117_*1035+121del	ENSP00000392425.2:n.*1035+117_*1035+121del
ENST00000517424.1:c.283+117_283+121del
NM_020771.3:c.1478+117_1478+121del	NP_065822.2:n.1478+117_1478+121del
NR_104424.1:n.1849+117_1849+121del
XM_006715528.2:c.1376+117_1376+121del	XP_006715591.1:n.1376+117_1376+121del
XM_006715529.2:c.1346+117_1346+121del	XP_006715592.1:n.1346+117_1346+121del
XM_006715530.2:c.974+117_974+121del	XP_006715593.1:n.974+117_974+121del
XM_011535989.1:c.992+117_992+121del	XP_011534291.1:n.992+117_992+121del
XM_011535990.1:c.974+117_974+121del	XP_011534292.1:n.974+117_974+121del
XM_011535991.1:c.896+117_896+121del	XP_011534293.1:n.896+117_896+121del
XM_011535992.1:c.1478+117_1478+121del	XP_011534294.1:n.1478+117_1478+121del
XR_942529.1:n.1755+117_1755+121del
XR_942531.1:n.1755+117_1755+121del
NM_001321080.1:c.1346+117_1346+121del	NP_001308009.1:n.1346+117_1346+121del
NM_001321083.1:c.1376+117_1376+121del	NP_001308012.1:n.1376+117_1376+121del
NM_001321084.1:c.974+117_974+121del	NP_001308013.1:n.974+117_974+121del
NM_001350554.1:c.1244+117_1244+121del	NP_001337483.1:n.1244+117_1244+121del
NM_001350555.1:c.1187+117_1187+121del	NP_001337484.1:n.1187+117_1187+121del
NM_001350556.1:c.992+117_992+121del	NP_001337485.1:n.992+117_992+121del
NM_001350557.1:c.974+117_974+121del	NP_001337486.1:n.974+117_974+121del
NM_001350558.1:c.974+117_974+121del	NP_001337487.1:n.974+117_974+121del
NM_001350559.1:c.896+117_896+121del	NP_001337488.1:n.896+117_896+121del
NM_001350560.1:c.695+117_695+121del	NP_001337489.1:n.695+117_695+121del
NR_146787.1:n.1596+117_1596+121del
NR_146788.1:n.1766+117_1766+121del
NR_146789.1:n.1755+117_1755+121del
NR_146790.1:n.1755+117_1755+121del
NR_146791.1:n.1755+117_1755+121del
NR_146792.1:n.1849+117_1849+121del
XM_017011114.2:c.1244+117_1244+121del	XP_016866603.1:n.1244+117_1244+121del
XM_017011119.2:c.974+117_974+121del	XP_016866608.1:n.974+117_974+121del
XM_017011122.1:c.896+117_896+121del	XP_016866611.1:n.896+117_896+121del
XR_001743536.1:n.1755+117_1755+121del
XR_001743538.1:n.1755+117_1755+121del
XR_942529.2:n.1755+117_1755+121del
NM_020771.4:c.1478+117_1478+121del MANE Select	NP_065822.2:n.1478+117_1478+121del
NM_001321080.2:c.1346+117_1346+121del	NP_001308009.1:n.1346+117_1346+121del
NM_001321083.2:c.1376+117_1376+121del	NP_001308012.1:n.1376+117_1376+121del
NM_001321084.2:c.974+117_974+121del	NP_001308013.1:n.974+117_974+121del
NM_001350554.2:c.1244+117_1244+121del	NP_001337483.1:n.1244+117_1244+121del
NM_001350555.2:c.1187+117_1187+121del	NP_001337484.1:n.1187+117_1187+121del
NM_001350556.2:c.992+117_992+121del	NP_001337485.1:n.992+117_992+121del
NM_001350557.2:c.974+117_974+121del	NP_001337486.1:n.974+117_974+121del
NM_001350558.2:c.974+117_974+121del	NP_001337487.1:n.974+117_974+121del
NM_001350559.2:c.896+117_896+121del	NP_001337488.1:n.896+117_896+121del
NM_001350560.2:c.695+117_695+121del	NP_001337489.1:n.695+117_695+121del
NR_104424.2:n.1849+117_1849+121del
NR_146787.2:n.1596+117_1596+121del
NR_146788.2:n.1766+117_1766+121del
NR_146789.2:n.1755+117_1755+121del
NR_146790.2:n.1755+117_1755+121del
NR_146791.2:n.1755+117_1755+121del
NR_146792.2:n.1849+117_1849+121del