Canonical Allele Identifier: CA2678789537

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960917-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960920del , CM000668.2:g.42960920del	GRCh38
NC_000006.11:g.42928658del , CM000668.1:g.42928658del	GRCh37
NC_000006.10:g.43036636del	NCBI36
NG_008396.1:g.5159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372808.4:c.153del MANE Select	ENSP00000361894.3:p.Leu52CysfsTer13
ENST00000372808.3:c.153del	ENSP00000361894.3:p.Leu52CysfsTer13
NM_018960.4:c.153del	NP_061833.1:p.Leu52CysfsTer13
XM_011514493.1:c.-13-1292del	XP_011512795.1:n.-13-1292del
XM_011514494.1:c.-13-1292del	XP_011512796.1:n.-13-1292del
NM_001318856.1:c.9-1292del	NP_001305785.1:n.9-1292del
NM_001318857.1:c.152-1842del	NP_001305786.1:n.152-1842del
NM_001318858.1:c.152-1842del	NP_001305787.1:n.152-1842del
NM_001318865.1:c.153del	NP_001305794.1:p.Leu52CysfsTer13
NM_018960.5:c.153del	NP_061833.1:p.Leu52CysfsTer13
NR_134890.1:n.690-1842del
NR_134891.1:n.593-1842del
NR_134892.1:n.593-1292del
NR_134899.1:n.167del
NM_018960.6:c.153del MANE Select	NP_061833.1:p.Leu52CysfsTer13
NM_001318856.2:c.9-1292del	NP_001305785.1:n.9-1292del
NM_001318857.2:c.152-1842del	NP_001305786.1:n.152-1842del
NM_001318858.2:c.152-1842del	NP_001305787.1:n.152-1842del
NM_001318865.2:c.153del	NP_001305794.1:p.Leu52CysfsTer13
NR_134890.2:n.340-1842del
NR_134891.2:n.243-1842del
NR_134892.2:n.243-1292del
NR_134899.2:n.167del