Canonical Allele Identifier: CA2678789538

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960943-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960945_42960946dup , CM000668.2:g.42960945_42960946dup	GRCh38
NC_000006.11:g.42928683_42928684dup , CM000668.1:g.42928683_42928684dup	GRCh37
NC_000006.10:g.43036661_43036662dup	NCBI36
NG_008396.1:g.5184_5185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.178_179dup MANE Select	ENSP00000361894.3:p.Val61GlyfsTer5
ENST00000372808.3:c.178_179dup	ENSP00000361894.3:p.Val61GlyfsTer5
NM_018960.4:c.178_179dup	NP_061833.1:p.Val61GlyfsTer5
XM_011514493.1:c.-13-1267_-13-1266dup	XP_011512795.1:n.-13-1267_-13-1266dup
XM_011514494.1:c.-13-1267_-13-1266dup	XP_011512796.1:n.-13-1267_-13-1266dup
NM_001318856.1:c.9-1267_9-1266dup	NP_001305785.1:n.9-1267_9-1266dup
NM_001318857.1:c.152-1817_152-1816dup	NP_001305786.1:n.152-1817_152-1816dup
NM_001318858.1:c.152-1817_152-1816dup	NP_001305787.1:n.152-1817_152-1816dup
NM_001318865.1:c.178_179dup	NP_001305794.1:p.Val61GlyfsTer5
NM_018960.5:c.178_179dup	NP_061833.1:p.Val61GlyfsTer5
NR_134890.1:n.690-1817_690-1816dup
NR_134891.1:n.593-1817_593-1816dup
NR_134892.1:n.593-1267_593-1266dup
NR_134899.1:n.192_193dup
NM_018960.6:c.178_179dup MANE Select	NP_061833.1:p.Val61GlyfsTer5
NM_001318856.2:c.9-1267_9-1266dup	NP_001305785.1:n.9-1267_9-1266dup
NM_001318857.2:c.152-1817_152-1816dup	NP_001305786.1:n.152-1817_152-1816dup
NM_001318858.2:c.152-1817_152-1816dup	NP_001305787.1:n.152-1817_152-1816dup
NM_001318865.2:c.178_179dup	NP_001305794.1:p.Val61GlyfsTer5
NR_134890.2:n.340-1817_340-1816dup
NR_134891.2:n.243-1817_243-1816dup
NR_134892.2:n.243-1267_243-1266dup
NR_134899.2:n.192_193dup