Canonical Allele Identifier: CA566785112

Gene: GNMT

Linked Data

• dbSNP Id: rs1294437667
• gnomAD v2: 6-42928596-TG-T
• gnomAD v3: 6-42960858-TG-T
• gnomAD v4: 6-42960858-TG-T
• MyVariant Identifiers: chr6:g.42928597del (hg19) ; chr6:g.42960859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960860del , CM000668.2:g.42960860del	GRCh38
NC_000006.11:g.42928598del , CM000668.1:g.42928598del	GRCh37
NC_000006.10:g.43036576del	NCBI36
NG_008396.1:g.5099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.93del MANE Select	ENSP00000361894.3:p.Trp31CysfsTer?
ENST00000372808.3:c.93del	ENSP00000361894.3:p.Trp31CysfsTer?
NM_018960.4:c.93del	NP_061833.1:p.Trp31CysfsTer?
XM_011514493.1:c.-13-1352del	XP_011512795.1:n.-13-1352del
XM_011514494.1:c.-13-1352del	XP_011512796.1:n.-13-1352del
NM_001318856.1:c.9-1352del	NP_001305785.1:n.9-1352del
NM_001318857.1:c.152-1902del	NP_001305786.1:n.152-1902del
NM_001318858.1:c.152-1902del	NP_001305787.1:n.152-1902del
NM_001318865.1:c.93del	NP_001305794.1:p.Trp31CysfsTer?
NM_018960.5:c.93del	NP_061833.1:p.Trp31CysfsTer?
NR_134890.1:n.690-1902del
NR_134891.1:n.593-1902del
NR_134892.1:n.593-1352del
NR_134899.1:n.107del
NM_018960.6:c.93del MANE Select	NP_061833.1:p.Trp31CysfsTer?
NM_001318856.2:c.9-1352del	NP_001305785.1:n.9-1352del
NM_001318857.2:c.152-1902del	NP_001305786.1:n.152-1902del
NM_001318858.2:c.152-1902del	NP_001305787.1:n.152-1902del
NM_001318865.2:c.93del	NP_001305794.1:p.Trp31CysfsTer?
NR_134890.2:n.340-1902del
NR_134891.2:n.243-1902del
NR_134892.2:n.243-1352del
NR_134899.2:n.107del