Canonical Allele Identifier: CA2610018759

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060943-TCAATAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060946_87060951del , CM000672.2:g.87060946_87060951del	GRCh38
NC_000010.10:g.88820703_88820708del , CM000672.1:g.88820703_88820708del	GRCh37
NC_000010.9:g.88810683_88810688del	NCBI36
NG_013010.1:g.39071_39076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2600_2605del
ENST00000487058.2:n.237_242del
ENST00000681987.1:n.863_868del
ENST00000681988.1:c.524_529del	ENSP00000507316.1:p.Gly175_Ile176del
ENST00000682396.1:c.1016_1021del	ENSP00000506764.1:n.1016_1021del
ENST00000682507.1:c.524_529del	ENSP00000508098.1:p.Gly175_Ile176del
ENST00000682622.1:c.1305_1310del	ENSP00000506732.1:n.1305_1310del
ENST00000682833.1:c.860_865del
ENST00000683022.1:c.1046_1051del
ENST00000683256.1:c.524_529del	ENSP00000507901.1:p.Gly175_Ile176del
ENST00000683269.1:c.524_529del	ENSP00000508107.1:p.Gly175_Ile176del
ENST00000683647.1:n.4359_4364del
ENST00000683783.1:c.524_529del	ENSP00000507881.1:p.Gly175_Ile176del
ENST00000683813.1:n.753_758del
ENST00000684032.1:c.880_885del	ENSP00000506969.1:n.880_885del
ENST00000684201.1:c.922-708_922-703del	ENSP00000507887.1:n.922-708_922-703del
ENST00000684338.1:c.1025_1030del	ENSP00000507457.1:p.Gly342_Ile343del
ENST00000684372.1:c.524_529del	ENSP00000508244.1:p.Gly175_Ile176del
ENST00000684392.1:n.1756_1761del
ENST00000684434.1:c.496_501del
ENST00000684546.1:c.524_529del	ENSP00000507729.1:p.Gly175_Ile176del
ENST00000684690.1:n.806_811del
ENST00000684699.1:n.3158_3163del
ENST00000277865.5:c.1025_1030del MANE Select	ENSP00000277865.4:p.Gly342_Ile343del
ENST00000277865.4:c.1025_1030del	ENSP00000277865.4:p.Gly342_Ile343del
ENST00000465164.1:n.104_109del
NM_005271.3:c.1025_1030del	NP_005262.1:p.Gly342_Ile343del
XM_011539668.1:c.524_529del	XP_011537970.1:p.Gly175_Ile176del
XM_011539669.1:c.524_529del	XP_011537971.1:p.Gly175_Ile176del
NM_001318900.1:c.626_631del	NP_001305829.1:p.Gly209_Ile210del
NM_001318901.1:c.524_529del	NP_001305830.1:p.Gly175_Ile176del
NM_001318902.1:c.524_529del	NP_001305831.1:p.Gly175_Ile176del
NM_001318904.1:c.524_529del	NP_001305833.1:p.Gly175_Ile176del
NM_001318905.1:c.524_529del	NP_001305834.1:p.Gly175_Ile176del
NM_001318906.1:c.524_529del	NP_001305835.1:p.Gly175_Ile176del
NM_005271.4:c.1025_1030del	NP_005262.1:p.Gly342_Ile343del
NM_005271.5:c.1025_1030del MANE Select	NP_005262.1:p.Gly342_Ile343del
NM_001318904.2:c.524_529del	NP_001305833.1:p.Gly175_Ile176del
NM_001318905.2:c.524_529del	NP_001305834.1:p.Gly175_Ile176del
NM_001318906.2:c.524_529del	NP_001305835.1:p.Gly175_Ile176del