Canonical Allele Identifier: CA2602408157

Gene: HACE1

Linked Data

• dbSNP Id: rs2114792543
• gnomAD v3: 6-104784364-TAAGTA-T
• gnomAD v4: 6-104784364-TAAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784368_104784372del , CM000668.2:g.104784368_104784372del	GRCh38
NC_000006.11:g.105232243_105232247del , CM000668.1:g.105232243_105232247del	GRCh37
NC_000006.10:g.105338936_105338940del	NCBI36
NG_046782.1:g.80551_80555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1478+48_1478+52del MANE Select	ENSP00000262903.4:n.1478+48_1478+52del
ENST00000262903.8:c.1478+48_1478+52del	ENSP00000262903.4:n.1478+48_1478+52del
ENST00000369125.6:c.1478+48_1478+52del	ENSP00000358121.2:n.1478+48_1478+52del
ENST00000369127.8:n.2499+48_2499+52del
ENST00000416605.6:c.*1035+48_*1035+52del	ENSP00000392425.2:n.*1035+48_*1035+52del
ENST00000517424.1:c.283+48_283+52del
NM_020771.3:c.1478+48_1478+52del	NP_065822.2:n.1478+48_1478+52del
NR_104424.1:n.1849+48_1849+52del
XM_006715528.2:c.1376+48_1376+52del	XP_006715591.1:n.1376+48_1376+52del
XM_006715529.2:c.1346+48_1346+52del	XP_006715592.1:n.1346+48_1346+52del
XM_006715530.2:c.974+48_974+52del	XP_006715593.1:n.974+48_974+52del
XM_011535989.1:c.992+48_992+52del	XP_011534291.1:n.992+48_992+52del
XM_011535990.1:c.974+48_974+52del	XP_011534292.1:n.974+48_974+52del
XM_011535991.1:c.896+48_896+52del	XP_011534293.1:n.896+48_896+52del
XM_011535992.1:c.1478+48_1478+52del	XP_011534294.1:n.1478+48_1478+52del
XR_942529.1:n.1755+48_1755+52del
XR_942531.1:n.1755+48_1755+52del
NM_001321080.1:c.1346+48_1346+52del	NP_001308009.1:n.1346+48_1346+52del
NM_001321083.1:c.1376+48_1376+52del	NP_001308012.1:n.1376+48_1376+52del
NM_001321084.1:c.974+48_974+52del	NP_001308013.1:n.974+48_974+52del
NM_001350554.1:c.1244+48_1244+52del	NP_001337483.1:n.1244+48_1244+52del
NM_001350555.1:c.1187+48_1187+52del	NP_001337484.1:n.1187+48_1187+52del
NM_001350556.1:c.992+48_992+52del	NP_001337485.1:n.992+48_992+52del
NM_001350557.1:c.974+48_974+52del	NP_001337486.1:n.974+48_974+52del
NM_001350558.1:c.974+48_974+52del	NP_001337487.1:n.974+48_974+52del
NM_001350559.1:c.896+48_896+52del	NP_001337488.1:n.896+48_896+52del
NM_001350560.1:c.695+48_695+52del	NP_001337489.1:n.695+48_695+52del
NR_146787.1:n.1596+48_1596+52del
NR_146788.1:n.1766+48_1766+52del
NR_146789.1:n.1755+48_1755+52del
NR_146790.1:n.1755+48_1755+52del
NR_146791.1:n.1755+48_1755+52del
NR_146792.1:n.1849+48_1849+52del
XM_017011114.2:c.1244+48_1244+52del	XP_016866603.1:n.1244+48_1244+52del
XM_017011119.2:c.974+48_974+52del	XP_016866608.1:n.974+48_974+52del
XM_017011122.1:c.896+48_896+52del	XP_016866611.1:n.896+48_896+52del
XR_001743536.1:n.1755+48_1755+52del
XR_001743538.1:n.1755+48_1755+52del
XR_942529.2:n.1755+48_1755+52del
NM_020771.4:c.1478+48_1478+52del MANE Select	NP_065822.2:n.1478+48_1478+52del
NM_001321080.2:c.1346+48_1346+52del	NP_001308009.1:n.1346+48_1346+52del
NM_001321083.2:c.1376+48_1376+52del	NP_001308012.1:n.1376+48_1376+52del
NM_001321084.2:c.974+48_974+52del	NP_001308013.1:n.974+48_974+52del
NM_001350554.2:c.1244+48_1244+52del	NP_001337483.1:n.1244+48_1244+52del
NM_001350555.2:c.1187+48_1187+52del	NP_001337484.1:n.1187+48_1187+52del
NM_001350556.2:c.992+48_992+52del	NP_001337485.1:n.992+48_992+52del
NM_001350557.2:c.974+48_974+52del	NP_001337486.1:n.974+48_974+52del
NM_001350558.2:c.974+48_974+52del	NP_001337487.1:n.974+48_974+52del
NM_001350559.2:c.896+48_896+52del	NP_001337488.1:n.896+48_896+52del
NM_001350560.2:c.695+48_695+52del	NP_001337489.1:n.695+48_695+52del
NR_104424.2:n.1849+48_1849+52del
NR_146787.2:n.1596+48_1596+52del
NR_146788.2:n.1766+48_1766+52del
NR_146789.2:n.1755+48_1755+52del
NR_146790.2:n.1755+48_1755+52del
NR_146791.2:n.1755+48_1755+52del
NR_146792.2:n.1849+48_1849+52del