Canonical Allele Identifier: CA1652669000

Gene: HACE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104784380_104784381delinsAG , CM000668.2:g.104784380_104784381delinsAG	GRCh38
NC_000006.11:g.105232255_105232256delinsAG , CM000668.1:g.105232255_105232256delinsAG	GRCh37
NC_000006.10:g.105338948_105338949delinsAG	NCBI36
NG_046782.1:g.80539_80540delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.1478+36_1478+37delinsCT MANE Select	ENSP00000262903.4:n.1478+36_1478+37delinsCT
ENST00000262903.8:c.1478+36_1478+37delinsCT	ENSP00000262903.4:n.1478+36_1478+37delinsCT
ENST00000369125.6:c.1478+36_1478+37delinsCT	ENSP00000358121.2:n.1478+36_1478+37delinsCT
ENST00000369127.8:n.2499+36_2499+37delinsCT
ENST00000416605.6:c.*1035+36_*1035+37delinsCT	ENSP00000392425.2:n.*1035+36_*1035+37delinsCT
ENST00000517424.1:c.283+36_283+37delinsCT
NM_020771.3:c.1478+36_1478+37delinsCT	NP_065822.2:n.1478+36_1478+37delinsCT
NR_104424.1:n.1849+36_1849+37delinsCT
XM_006715528.2:c.1376+36_1376+37delinsCT	XP_006715591.1:n.1376+36_1376+37delinsCT
XM_006715529.2:c.1346+36_1346+37delinsCT	XP_006715592.1:n.1346+36_1346+37delinsCT
XM_006715530.2:c.974+36_974+37delinsCT	XP_006715593.1:n.974+36_974+37delinsCT
XM_011535989.1:c.992+36_992+37delinsCT	XP_011534291.1:n.992+36_992+37delinsCT
XM_011535990.1:c.974+36_974+37delinsCT	XP_011534292.1:n.974+36_974+37delinsCT
XM_011535991.1:c.896+36_896+37delinsCT	XP_011534293.1:n.896+36_896+37delinsCT
XM_011535992.1:c.1478+36_1478+37delinsCT	XP_011534294.1:n.1478+36_1478+37delinsCT
XR_942529.1:n.1755+36_1755+37delinsCT
XR_942531.1:n.1755+36_1755+37delinsCT
NM_001321080.1:c.1346+36_1346+37delinsCT	NP_001308009.1:n.1346+36_1346+37delinsCT
NM_001321083.1:c.1376+36_1376+37delinsCT	NP_001308012.1:n.1376+36_1376+37delinsCT
NM_001321084.1:c.974+36_974+37delinsCT	NP_001308013.1:n.974+36_974+37delinsCT
NM_001350554.1:c.1244+36_1244+37delinsCT	NP_001337483.1:n.1244+36_1244+37delinsCT
NM_001350555.1:c.1187+36_1187+37delinsCT	NP_001337484.1:n.1187+36_1187+37delinsCT
NM_001350556.1:c.992+36_992+37delinsCT	NP_001337485.1:n.992+36_992+37delinsCT
NM_001350557.1:c.974+36_974+37delinsCT	NP_001337486.1:n.974+36_974+37delinsCT
NM_001350558.1:c.974+36_974+37delinsCT	NP_001337487.1:n.974+36_974+37delinsCT
NM_001350559.1:c.896+36_896+37delinsCT	NP_001337488.1:n.896+36_896+37delinsCT
NM_001350560.1:c.695+36_695+37delinsCT	NP_001337489.1:n.695+36_695+37delinsCT
NR_146787.1:n.1596+36_1596+37delinsCT
NR_146788.1:n.1766+36_1766+37delinsCT
NR_146789.1:n.1755+36_1755+37delinsCT
NR_146790.1:n.1755+36_1755+37delinsCT
NR_146791.1:n.1755+36_1755+37delinsCT
NR_146792.1:n.1849+36_1849+37delinsCT
XM_017011114.2:c.1244+36_1244+37delinsCT	XP_016866603.1:n.1244+36_1244+37delinsCT
XM_017011119.2:c.974+36_974+37delinsCT	XP_016866608.1:n.974+36_974+37delinsCT
XM_017011122.1:c.896+36_896+37delinsCT	XP_016866611.1:n.896+36_896+37delinsCT
XR_001743536.1:n.1755+36_1755+37delinsCT
XR_001743538.1:n.1755+36_1755+37delinsCT
XR_942529.2:n.1755+36_1755+37delinsCT
NM_020771.4:c.1478+36_1478+37delinsCT MANE Select	NP_065822.2:n.1478+36_1478+37delinsCT
NM_001321080.2:c.1346+36_1346+37delinsCT	NP_001308009.1:n.1346+36_1346+37delinsCT
NM_001321083.2:c.1376+36_1376+37delinsCT	NP_001308012.1:n.1376+36_1376+37delinsCT
NM_001321084.2:c.974+36_974+37delinsCT	NP_001308013.1:n.974+36_974+37delinsCT
NM_001350554.2:c.1244+36_1244+37delinsCT	NP_001337483.1:n.1244+36_1244+37delinsCT
NM_001350555.2:c.1187+36_1187+37delinsCT	NP_001337484.1:n.1187+36_1187+37delinsCT
NM_001350556.2:c.992+36_992+37delinsCT	NP_001337485.1:n.992+36_992+37delinsCT
NM_001350557.2:c.974+36_974+37delinsCT	NP_001337486.1:n.974+36_974+37delinsCT
NM_001350558.2:c.974+36_974+37delinsCT	NP_001337487.1:n.974+36_974+37delinsCT
NM_001350559.2:c.896+36_896+37delinsCT	NP_001337488.1:n.896+36_896+37delinsCT
NM_001350560.2:c.695+36_695+37delinsCT	NP_001337489.1:n.695+36_695+37delinsCT
NR_104424.2:n.1849+36_1849+37delinsCT
NR_146787.2:n.1596+36_1596+37delinsCT
NR_146788.2:n.1766+36_1766+37delinsCT
NR_146789.2:n.1755+36_1755+37delinsCT
NR_146790.2:n.1755+36_1755+37delinsCT
NR_146791.2:n.1755+36_1755+37delinsCT
NR_146792.2:n.1849+36_1849+37delinsCT