Canonical Allele Identifier: CA1652628618

Gene: HACE1

Linked Data

• dbSNP Id: rs1777143907
• gnomAD v4: 6-104744179-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.104744180_104744182del , CM000668.2:g.104744180_104744182del	GRCh38
NC_000006.11:g.105192055_105192057del , CM000668.1:g.105192055_105192057del	GRCh37
NC_000006.10:g.105298748_105298750del	NCBI36
NG_046782.1:g.120738_120740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262903.9:c.2491_2493del MANE Select	ENSP00000262903.4:p.Leu831del
ENST00000262903.8:c.2491_2493del	ENSP00000262903.4:p.Leu831del
ENST00000369125.6:c.1846_1848del	ENSP00000358121.2:p.Leu616del
ENST00000369127.8:n.3512_3514del
ENST00000416605.6:c.*2153_*2155del	ENSP00000392425.2:n.*2153_*2155del
ENST00000517424.1:c.1283_1285del
ENST00000517995.5:n.1005_1007del
ENST00000518402.5:c.662_664del
ENST00000518503.5:c.758-9_758-7del
NM_020771.3:c.2491_2493del	NP_065822.2:p.Leu831del
NR_104424.1:n.2967_2969del
XM_006715528.2:c.2389_2391del	XP_006715591.1:p.Leu797del
XM_006715529.2:c.2359_2361del	XP_006715592.1:p.Leu787del
XM_006715530.2:c.1987_1989del	XP_006715593.1:p.Leu663del
XM_011535989.1:c.2005_2007del	XP_011534291.1:p.Leu669del
XM_011535990.1:c.1987_1989del	XP_011534292.1:p.Leu663del
XM_011535991.1:c.1909_1911del	XP_011534293.1:p.Leu637del
XR_942529.1:n.2768_2770del
NM_001321080.1:c.2359_2361del	NP_001308009.1:p.Leu787del
NM_001321083.1:c.2389_2391del	NP_001308012.1:p.Leu797del
NM_001321084.1:c.1987_1989del	NP_001308013.1:p.Leu663del
NM_001350554.1:c.2257_2259del	NP_001337483.1:p.Leu753del
NM_001350555.1:c.2200_2202del	NP_001337484.1:p.Leu734del
NM_001350556.1:c.2005_2007del	NP_001337485.1:p.Leu669del
NM_001350557.1:c.1987_1989del	NP_001337486.1:p.Leu663del
NM_001350558.1:c.1987_1989del	NP_001337487.1:p.Leu663del
NM_001350559.1:c.1909_1911del	NP_001337488.1:p.Leu637del
NM_001350560.1:c.1708_1710del	NP_001337489.1:p.Leu570del
NR_146787.1:n.2596_2598del
NR_146788.1:n.2766_2768del
NR_146789.1:n.2755_2757del
NR_146790.1:n.2772_2774del
NR_146791.1:n.2873_2875del
NR_146792.1:n.2849_2851del
XM_017011114.2:c.2257_2259del	XP_016866603.1:p.Leu753del
XM_017011119.2:c.1987_1989del	XP_016866608.1:p.Leu663del
XM_017011122.1:c.1909_1911del	XP_016866611.1:p.Leu637del
XR_001743536.1:n.2768_2770del
XR_001743538.1:n.2860_2862del
XR_942529.2:n.2768_2770del
NM_020771.4:c.2491_2493del MANE Select	NP_065822.2:p.Leu831del
NM_001321080.2:c.2359_2361del	NP_001308009.1:p.Leu787del
NM_001321083.2:c.2389_2391del	NP_001308012.1:p.Leu797del
NM_001321084.2:c.1987_1989del	NP_001308013.1:p.Leu663del
NM_001350554.2:c.2257_2259del	NP_001337483.1:p.Leu753del
NM_001350555.2:c.2200_2202del	NP_001337484.1:p.Leu734del
NM_001350556.2:c.2005_2007del	NP_001337485.1:p.Leu669del
NM_001350557.2:c.1987_1989del	NP_001337486.1:p.Leu663del
NM_001350558.2:c.1987_1989del	NP_001337487.1:p.Leu663del
NM_001350559.2:c.1909_1911del	NP_001337488.1:p.Leu637del
NM_001350560.2:c.1708_1710del	NP_001337489.1:p.Leu570del
NR_104424.2:n.2967_2969del
NR_146787.2:n.2596_2598del
NR_146788.2:n.2766_2768del
NR_146789.2:n.2755_2757del
NR_146790.2:n.2772_2774del
NR_146791.2:n.2873_2875del
NR_146792.2:n.2849_2851del