Canonical Allele Identifier: CA591144351

Gene: GLT6D1

Linked Data

• dbSNP Id: rs1216968321
• gnomAD v2: 9-138529684-ATGT-A
• gnomAD v3: 9-135637838-ATGT-A
• gnomAD v4: 9-135637838-ATGT-A
• MyVariant Identifiers: chr9:g.138529685_138529687del (hg19) ; chr9:g.135637839_135637841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135637842_135637844del , CM000671.2:g.135637842_135637844del	GRCh38
NC_000009.11:g.138529688_138529690del , CM000671.1:g.138529688_138529690del	GRCh37
NC_000009.10:g.137669509_137669511del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000371763.6:c.71+1276_71+1278del MANE Select	ENSP00000360829.1:n.71+1276_71+1278del
ENST00000371763.5:c.71+1276_71+1278del	ENSP00000360829.1:n.71+1276_71+1278del
ENST00000613244.1:c.71+1276_71+1278del	ENSP00000483037.1:n.71+1276_71+1278del
NM_182974.2:c.71+1276_71+1278del	NP_892019.2:n.71+1276_71+1278del
XM_011518633.1:c.71+1276_71+1278del	XP_011516935.1:n.71+1276_71+1278del
XM_011518634.1:c.71+1276_71+1278del	XP_011516936.1:n.71+1276_71+1278del
XM_011518635.1:c.71+1276_71+1278del	XP_011516937.1:n.71+1276_71+1278del
XM_011518636.1:c.71+1276_71+1278del	XP_011516938.1:n.71+1276_71+1278del
XM_011518637.1:c.71+1276_71+1278del	XP_011516939.1:n.71+1276_71+1278del
XM_011518633.2:c.71+1276_71+1278del	XP_011516935.1:n.71+1276_71+1278del
XM_011518634.2:c.71+1276_71+1278del	XP_011516936.1:n.71+1276_71+1278del
XM_011518635.2:c.71+1276_71+1278del	XP_011516937.1:n.71+1276_71+1278del
XM_011518636.2:c.71+1276_71+1278del	XP_011516938.1:n.71+1276_71+1278del
XM_011518637.2:c.71+1276_71+1278del	XP_011516939.1:n.71+1276_71+1278del
XM_024447534.1:c.71+1276_71+1278del	XP_024303302.1:n.71+1276_71+1278del
NM_182974.3:c.71+1276_71+1278del MANE Select	NP_892019.2:n.71+1276_71+1278del