Canonical Allele Identifier: CA2678789532

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960813-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960815del , CM000668.2:g.42960815del	GRCh38
NC_000006.11:g.42928553del , CM000668.1:g.42928553del	GRCh37
NC_000006.10:g.43036531del	NCBI36
NG_008396.1:g.5054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.48del MANE Select	ENSP00000361894.3:p.Leu18SerfsTer?
ENST00000372808.3:c.48del	ENSP00000361894.3:p.Leu18SerfsTer?
NM_018960.4:c.48del	NP_061833.1:p.Leu18SerfsTer?
XM_011514493.1:c.-13-1397del	XP_011512795.1:n.-13-1397del
XM_011514494.1:c.-13-1397del	XP_011512796.1:n.-13-1397del
NM_001318856.1:c.9-1397del	NP_001305785.1:n.9-1397del
NM_001318857.1:c.152-1947del	NP_001305786.1:n.152-1947del
NM_001318858.1:c.152-1947del	NP_001305787.1:n.152-1947del
NM_001318865.1:c.48del	NP_001305794.1:p.Leu18SerfsTer?
NM_018960.5:c.48del	NP_061833.1:p.Leu18SerfsTer?
NR_134890.1:n.690-1947del
NR_134891.1:n.593-1947del
NR_134892.1:n.593-1397del
NR_134899.1:n.62del
NM_018960.6:c.48del MANE Select	NP_061833.1:p.Leu18SerfsTer?
NM_001318856.2:c.9-1397del	NP_001305785.1:n.9-1397del
NM_001318857.2:c.152-1947del	NP_001305786.1:n.152-1947del
NM_001318858.2:c.152-1947del	NP_001305787.1:n.152-1947del
NM_001318865.2:c.48del	NP_001305794.1:p.Leu18SerfsTer?
NR_134890.2:n.340-1947del
NR_134891.2:n.243-1947del
NR_134892.2:n.243-1397del
NR_134899.2:n.62del