Canonical Allele Identifier: CA3810587

Gene: GNMT

Linked Data

• dbSNP Id: rs756391916
• ExAC: 6:42928661 GC / G
• gnomAD v2: 6-42928661-GC-G
• gnomAD v4: 6-42960923-GC-G
• MyVariant Identifiers: chr6:g.42928662del (hg19) ; chr6:g.42960924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960924del , CM000668.2:g.42960924del	GRCh38
NC_000006.11:g.42928662del , CM000668.1:g.42928662del	GRCh37
NC_000006.10:g.43036640del	NCBI36
NG_008396.1:g.5163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372808.4:c.157del MANE Select	ENSP00000361894.3:p.Leu53CysfsTer12
ENST00000372808.3:c.157del	ENSP00000361894.3:p.Leu53CysfsTer12
NM_018960.4:c.157del	NP_061833.1:p.Leu53CysfsTer12
XM_011514493.1:c.-13-1288del	XP_011512795.1:n.-13-1288del
XM_011514494.1:c.-13-1288del	XP_011512796.1:n.-13-1288del
NM_001318856.1:c.9-1288del	NP_001305785.1:n.9-1288del
NM_001318857.1:c.152-1838del	NP_001305786.1:n.152-1838del
NM_001318858.1:c.152-1838del	NP_001305787.1:n.152-1838del
NM_001318865.1:c.157del	NP_001305794.1:p.Leu53CysfsTer12
NM_018960.5:c.157del	NP_061833.1:p.Leu53CysfsTer12
NR_134890.1:n.690-1838del
NR_134891.1:n.593-1838del
NR_134892.1:n.593-1288del
NR_134899.1:n.171del
NM_018960.6:c.157del MANE Select	NP_061833.1:p.Leu53CysfsTer12
NM_001318856.2:c.9-1288del	NP_001305785.1:n.9-1288del
NM_001318857.2:c.152-1838del	NP_001305786.1:n.152-1838del
NM_001318858.2:c.152-1838del	NP_001305787.1:n.152-1838del
NM_001318865.2:c.157del	NP_001305794.1:p.Leu53CysfsTer12
NR_134890.2:n.340-1838del
NR_134891.2:n.243-1838del
NR_134892.2:n.243-1288del
NR_134899.2:n.171del