Canonical Allele Identifier: CA908134443

Gene: GLT8D1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52696598del , CM000665.2:g.52696598del	GRCh38
NC_000003.11:g.52730614del , CM000665.1:g.52730614del	GRCh37
NC_000003.10:g.52705654del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018446.4:c.393del MANE Select	NP_060916.1:p.Lys131AsnfsTer7
ENST00000266014.11:c.393del MANE Select	ENSP00000266014.5:p.Lys131AsnfsTer7
NM_001010983.2:c.393del	NP_001010983.1:p.Lys131AsnfsTer7
NM_001010983.3:c.393del	NP_001010983.1:p.Lys131AsnfsTer7
NM_001278280.1:c.393del	NP_001265209.1:p.Lys131AsnfsTer7
NM_001278280.2:c.393del	NP_001265209.1:p.Lys131AsnfsTer7
NM_001278281.1:c.393del	NP_001265210.1:p.Lys131AsnfsTer7
NM_001278281.2:c.393del	NP_001265210.1:p.Lys131AsnfsTer7
NM_018446.3:c.393del	NP_060916.1:p.Lys131AsnfsTer7
NM_152932.2:c.393del	NP_690909.1:p.Lys131AsnfsTer7
NM_152932.3:c.393del	NP_690909.1:p.Lys131AsnfsTer7
ENST00000266014.9:c.393del	ENSP00000266014.5:p.Lys131AsnfsTer7
ENST00000394783.7:c.393del	ENSP00000378263.3:p.Lys131AsnfsTer7
ENST00000407584.7:c.-115del	ENSP00000385730.4:n.-115del
ENST00000463827.1:n.94del
ENST00000478968.6:c.393del	ENSP00000419612.2:p.Lys131AsnfsTer7
ENST00000479553.5:c.393del	ENSP00000417713.1:p.Lys131AsnfsTer7
ENST00000480080.1:n.42del
ENST00000484163.5:n.665del
ENST00000485899.1:n.430del
ENST00000491606.5:c.393del	ENSP00000418853.1:p.Lys131AsnfsTer7
XM_024453641.1:c.393del	XP_024309409.1:p.Lys131AsnfsTer7
XR_002959551.1:n.977del