Canonical Allele Identifier: CA1652668859

Gene: HACE1

Linked Data

• dbSNP Id: rs1782095036
• gnomAD v4: 6-104784257-AACAGAAGAAAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784261_104784273del , CM000668.2:g.104784261_104784273del	GRCh38
NC_000006.11:g.105232136_105232148del , CM000668.1:g.105232136_105232148del	GRCh37
NC_000006.10:g.105338829_105338841del	NCBI36
NG_046782.1:g.80650_80662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1479-97_1479-85del MANE Select	ENSP00000262903.4:n.1479-97_1479-85del
ENST00000262903.8:c.1479-97_1479-85del	ENSP00000262903.4:n.1479-97_1479-85del
ENST00000369125.6:c.1479-97_1479-85del	ENSP00000358121.2:n.1479-97_1479-85del
ENST00000369127.8:n.2500-97_2500-85del
ENST00000416605.6:c.*1036-97_*1036-85del	ENSP00000392425.2:n.*1036-97_*1036-85del
ENST00000517424.1:c.284-97_284-85del
NM_020771.3:c.1479-97_1479-85del	NP_065822.2:n.1479-97_1479-85del
NR_104424.1:n.1850-97_1850-85del
XM_006715528.2:c.1377-97_1377-85del	XP_006715591.1:n.1377-97_1377-85del
XM_006715529.2:c.1347-97_1347-85del	XP_006715592.1:n.1347-97_1347-85del
XM_006715530.2:c.975-97_975-85del	XP_006715593.1:n.975-97_975-85del
XM_011535989.1:c.993-97_993-85del	XP_011534291.1:n.993-97_993-85del
XM_011535990.1:c.975-97_975-85del	XP_011534292.1:n.975-97_975-85del
XM_011535991.1:c.897-97_897-85del	XP_011534293.1:n.897-97_897-85del
XM_011535992.1:c.1479-97_1479-85del	XP_011534294.1:n.1479-97_1479-85del
XR_942529.1:n.1756-97_1756-85del
XR_942531.1:n.1756-97_1756-85del
NM_001321080.1:c.1347-97_1347-85del	NP_001308009.1:n.1347-97_1347-85del
NM_001321083.1:c.1377-97_1377-85del	NP_001308012.1:n.1377-97_1377-85del
NM_001321084.1:c.975-97_975-85del	NP_001308013.1:n.975-97_975-85del
NM_001350554.1:c.1245-97_1245-85del	NP_001337483.1:n.1245-97_1245-85del
NM_001350555.1:c.1188-97_1188-85del	NP_001337484.1:n.1188-97_1188-85del
NM_001350556.1:c.993-97_993-85del	NP_001337485.1:n.993-97_993-85del
NM_001350557.1:c.975-97_975-85del	NP_001337486.1:n.975-97_975-85del
NM_001350558.1:c.975-97_975-85del	NP_001337487.1:n.975-97_975-85del
NM_001350559.1:c.897-97_897-85del	NP_001337488.1:n.897-97_897-85del
NM_001350560.1:c.696-97_696-85del	NP_001337489.1:n.696-97_696-85del
NR_146787.1:n.1597-97_1597-85del
NR_146788.1:n.1767-97_1767-85del
NR_146789.1:n.1756-97_1756-85del
NR_146790.1:n.1756-97_1756-85del
NR_146791.1:n.1756-97_1756-85del
NR_146792.1:n.1850-97_1850-85del
XM_017011114.2:c.1245-97_1245-85del	XP_016866603.1:n.1245-97_1245-85del
XM_017011119.2:c.975-97_975-85del	XP_016866608.1:n.975-97_975-85del
XM_017011122.1:c.897-97_897-85del	XP_016866611.1:n.897-97_897-85del
XR_001743536.1:n.1756-97_1756-85del
XR_001743538.1:n.1756-97_1756-85del
XR_942529.2:n.1756-97_1756-85del
NM_020771.4:c.1479-97_1479-85del MANE Select	NP_065822.2:n.1479-97_1479-85del
NM_001321080.2:c.1347-97_1347-85del	NP_001308009.1:n.1347-97_1347-85del
NM_001321083.2:c.1377-97_1377-85del	NP_001308012.1:n.1377-97_1377-85del
NM_001321084.2:c.975-97_975-85del	NP_001308013.1:n.975-97_975-85del
NM_001350554.2:c.1245-97_1245-85del	NP_001337483.1:n.1245-97_1245-85del
NM_001350555.2:c.1188-97_1188-85del	NP_001337484.1:n.1188-97_1188-85del
NM_001350556.2:c.993-97_993-85del	NP_001337485.1:n.993-97_993-85del
NM_001350557.2:c.975-97_975-85del	NP_001337486.1:n.975-97_975-85del
NM_001350558.2:c.975-97_975-85del	NP_001337487.1:n.975-97_975-85del
NM_001350559.2:c.897-97_897-85del	NP_001337488.1:n.897-97_897-85del
NM_001350560.2:c.696-97_696-85del	NP_001337489.1:n.696-97_696-85del
NR_104424.2:n.1850-97_1850-85del
NR_146787.2:n.1597-97_1597-85del
NR_146788.2:n.1767-97_1767-85del
NR_146789.2:n.1756-97_1756-85del
NR_146790.2:n.1756-97_1756-85del
NR_146791.2:n.1756-97_1756-85del
NR_146792.2:n.1850-97_1850-85del