Canonical Allele Identifier: CA2596057069

Gene: GNMT

Linked Data

• gnomAD v3: 6-42960896-C-CGA
• gnomAD v4: 6-42960896-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960898_42960899dup , CM000668.2:g.42960898_42960899dup	GRCh38
NC_000006.11:g.42928636_42928637dup , CM000668.1:g.42928636_42928637dup	GRCh37
NC_000006.10:g.43036614_43036615dup	NCBI36
NG_008396.1:g.5137_5138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.131_132dup MANE Select	ENSP00000361894.3:p.Tyr45SerfsTer21
ENST00000372808.3:c.131_132dup	ENSP00000361894.3:p.Tyr45SerfsTer21
NM_018960.4:c.131_132dup	NP_061833.1:p.Tyr45SerfsTer21
XM_011514493.1:c.-13-1314_-13-1313dup	XP_011512795.1:n.-13-1314_-13-1313dup
XM_011514494.1:c.-13-1314_-13-1313dup	XP_011512796.1:n.-13-1314_-13-1313dup
NM_001318856.1:c.9-1314_9-1313dup	NP_001305785.1:n.9-1314_9-1313dup
NM_001318857.1:c.152-1864_152-1863dup	NP_001305786.1:n.152-1864_152-1863dup
NM_001318858.1:c.152-1864_152-1863dup	NP_001305787.1:n.152-1864_152-1863dup
NM_001318865.1:c.131_132dup	NP_001305794.1:p.Tyr45SerfsTer21
NM_018960.5:c.131_132dup	NP_061833.1:p.Tyr45SerfsTer21
NR_134890.1:n.690-1864_690-1863dup
NR_134891.1:n.593-1864_593-1863dup
NR_134892.1:n.593-1314_593-1313dup
NR_134899.1:n.145_146dup
NM_018960.6:c.131_132dup MANE Select	NP_061833.1:p.Tyr45SerfsTer21
NM_001318856.2:c.9-1314_9-1313dup	NP_001305785.1:n.9-1314_9-1313dup
NM_001318857.2:c.152-1864_152-1863dup	NP_001305786.1:n.152-1864_152-1863dup
NM_001318858.2:c.152-1864_152-1863dup	NP_001305787.1:n.152-1864_152-1863dup
NM_001318865.2:c.131_132dup	NP_001305794.1:p.Tyr45SerfsTer21
NR_134890.2:n.340-1864_340-1863dup
NR_134891.2:n.243-1864_243-1863dup
NR_134892.2:n.243-1314_243-1313dup
NR_134899.2:n.145_146dup