Canonical Allele Identifier: CA566784955

Gene: GNMT

Linked Data

• dbSNP Id: rs1177903737
• gnomAD v2: 6-42928577-CG-C
• gnomAD v4: 6-42960839-CG-C
• MyVariant Identifiers: chr6:g.42928578del (hg19) ; chr6:g.42960840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960843del , CM000668.2:g.42960843del	GRCh38
NC_000006.11:g.42928581del , CM000668.1:g.42928581del	GRCh37
NC_000006.10:g.43036559del	NCBI36
NG_008396.1:g.5082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.76del MANE Select	ENSP00000361894.3:p.Glu26ArgfsTer?
ENST00000372808.3:c.76del	ENSP00000361894.3:p.Glu26ArgfsTer?
NM_018960.4:c.76del	NP_061833.1:p.Glu26ArgfsTer?
XM_011514493.1:c.-13-1369del	XP_011512795.1:n.-13-1369del
XM_011514494.1:c.-13-1369del	XP_011512796.1:n.-13-1369del
NM_001318856.1:c.9-1369del	NP_001305785.1:n.9-1369del
NM_001318857.1:c.152-1919del	NP_001305786.1:n.152-1919del
NM_001318858.1:c.152-1919del	NP_001305787.1:n.152-1919del
NM_001318865.1:c.76del	NP_001305794.1:p.Glu26ArgfsTer?
NM_018960.5:c.76del	NP_061833.1:p.Glu26ArgfsTer?
NR_134890.1:n.690-1919del
NR_134891.1:n.593-1919del
NR_134892.1:n.593-1369del
NR_134899.1:n.90del
NM_018960.6:c.76del MANE Select	NP_061833.1:p.Glu26ArgfsTer?
NM_001318856.2:c.9-1369del	NP_001305785.1:n.9-1369del
NM_001318857.2:c.152-1919del	NP_001305786.1:n.152-1919del
NM_001318858.2:c.152-1919del	NP_001305787.1:n.152-1919del
NM_001318865.2:c.76del	NP_001305794.1:p.Glu26ArgfsTer?
NR_134890.2:n.340-1919del
NR_134891.2:n.243-1919del
NR_134892.2:n.243-1369del
NR_134899.2:n.90del