Canonical Allele Identifier: CA2678789535

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960904-A-AGGCATGGCTGCTTGGGCTGCTGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960905_42960930dup , CM000668.2:g.42960905_42960930dup	GRCh38
NC_000006.11:g.42928643_42928668dup , CM000668.1:g.42928643_42928668dup	GRCh37
NC_000006.10:g.43036621_43036646dup	NCBI36
NG_008396.1:g.5144_5169dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000372808.4:c.138_163dup MANE Select	ENSP00000361894.3:p.Gln55ArgfsTer19
ENST00000372808.3:c.138_163dup	ENSP00000361894.3:p.Gln55ArgfsTer19
NM_018960.4:c.138_163dup	NP_061833.1:p.Gln55ArgfsTer19
XM_011514493.1:c.-13-1307_-13-1282dup	XP_011512795.1:n.-13-1307_-13-1282dup
XM_011514494.1:c.-13-1307_-13-1282dup	XP_011512796.1:n.-13-1307_-13-1282dup
NM_001318856.1:c.9-1307_9-1282dup	NP_001305785.1:n.9-1307_9-1282dup
NM_001318857.1:c.152-1857_152-1832dup	NP_001305786.1:n.152-1857_152-1832dup
NM_001318858.1:c.152-1857_152-1832dup	NP_001305787.1:n.152-1857_152-1832dup
NM_001318865.1:c.138_163dup	NP_001305794.1:p.Gln55ArgfsTer19
NM_018960.5:c.138_163dup	NP_061833.1:p.Gln55ArgfsTer19
NR_134890.1:n.690-1857_690-1832dup
NR_134891.1:n.593-1857_593-1832dup
NR_134892.1:n.593-1307_593-1282dup
NR_134899.1:n.152_177dup
NM_018960.6:c.138_163dup MANE Select	NP_061833.1:p.Gln55ArgfsTer19
NM_001318856.2:c.9-1307_9-1282dup	NP_001305785.1:n.9-1307_9-1282dup
NM_001318857.2:c.152-1857_152-1832dup	NP_001305786.1:n.152-1857_152-1832dup
NM_001318858.2:c.152-1857_152-1832dup	NP_001305787.1:n.152-1857_152-1832dup
NM_001318865.2:c.138_163dup	NP_001305794.1:p.Gln55ArgfsTer19
NR_134890.2:n.340-1857_340-1832dup
NR_134891.2:n.243-1857_243-1832dup
NR_134892.2:n.243-1307_243-1282dup
NR_134899.2:n.152_177dup