Canonical Allele Identifier: CA566785113

Gene: GNMT

Linked Data

• dbSNP Id: rs1561814348
• gnomAD v2: 6-42928688-GCT-G
• gnomAD v4: 6-42960950-GCT-G
• MyVariant Identifiers: chr6:g.42928689_42928690del (hg19) ; chr6:g.42960951_42960952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960952_42960953del , CM000668.2:g.42960952_42960953del	GRCh38
NC_000006.11:g.42928690_42928691del , CM000668.1:g.42928690_42928691del	GRCh37
NC_000006.10:g.43036668_43036669del	NCBI36
NG_008396.1:g.5191_5192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.185_186del MANE Select	ENSP00000361894.3:p.Leu62ArgfsTer27
ENST00000372808.3:c.185_186del	ENSP00000361894.3:p.Leu62ArgfsTer27
NM_018960.4:c.185_186del	NP_061833.1:p.Leu62ArgfsTer27
XM_011514493.1:c.-13-1260_-13-1259del	XP_011512795.1:n.-13-1260_-13-1259del
XM_011514494.1:c.-13-1260_-13-1259del	XP_011512796.1:n.-13-1260_-13-1259del
NM_001318856.1:c.9-1260_9-1259del	NP_001305785.1:n.9-1260_9-1259del
NM_001318857.1:c.152-1810_152-1809del	NP_001305786.1:n.152-1810_152-1809del
NM_001318858.1:c.152-1810_152-1809del	NP_001305787.1:n.152-1810_152-1809del
NM_001318865.1:c.185_186del	NP_001305794.1:p.Leu62ArgfsTer27
NM_018960.5:c.185_186del	NP_061833.1:p.Leu62ArgfsTer27
NR_134890.1:n.690-1810_690-1809del
NR_134891.1:n.593-1810_593-1809del
NR_134892.1:n.593-1260_593-1259del
NR_134899.1:n.199_200del
NM_018960.6:c.185_186del MANE Select	NP_061833.1:p.Leu62ArgfsTer27
NM_001318856.2:c.9-1260_9-1259del	NP_001305785.1:n.9-1260_9-1259del
NM_001318857.2:c.152-1810_152-1809del	NP_001305786.1:n.152-1810_152-1809del
NM_001318858.2:c.152-1810_152-1809del	NP_001305787.1:n.152-1810_152-1809del
NM_001318865.2:c.185_186del	NP_001305794.1:p.Leu62ArgfsTer27
NR_134890.2:n.340-1810_340-1809del
NR_134891.2:n.243-1810_243-1809del
NR_134892.2:n.243-1260_243-1259del
NR_134899.2:n.199_200del