Canonical Allele Identifier: CA138216364

Gene: GNMT

Linked Data

• dbSNP Id: rs140175143
• gnomAD v2: 6-42928946-GAC-G
• gnomAD v3: 6-42961208-GAC-G
• gnomAD v4: 6-42961208-GAC-G
• MyVariant Identifiers: chr6:g.42928947_42928948del (hg19) ; chr6:g.42961209_42961210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42961209_42961210del , CM000668.2:g.42961209_42961210del	GRCh38
NC_000006.11:g.42928947_42928948del , CM000668.1:g.42928947_42928948del	GRCh37
NC_000006.10:g.43036925_43036926del	NCBI36
NG_008396.1:g.5448_5449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.206+236_206+237del MANE Select	ENSP00000361894.3:n.206+236_206+237del
ENST00000372808.3:c.206+236_206+237del	ENSP00000361894.3:n.206+236_206+237del
NM_018960.4:c.206+236_206+237del	NP_061833.1:n.206+236_206+237del
XM_011514493.1:c.-13-1003_-13-1002del	XP_011512795.1:n.-13-1003_-13-1002del
XM_011514494.1:c.-13-1003_-13-1002del	XP_011512796.1:n.-13-1003_-13-1002del
NM_001318856.1:c.9-1003_9-1002del	NP_001305785.1:n.9-1003_9-1002del
NM_001318857.1:c.152-1553_152-1552del	NP_001305786.1:n.152-1553_152-1552del
NM_001318858.1:c.152-1553_152-1552del	NP_001305787.1:n.152-1553_152-1552del
NM_001318865.1:c.206+236_206+237del	NP_001305794.1:n.206+236_206+237del
NM_018960.5:c.206+236_206+237del	NP_061833.1:n.206+236_206+237del
NR_134890.1:n.690-1553_690-1552del
NR_134891.1:n.593-1553_593-1552del
NR_134892.1:n.593-1003_593-1002del
NR_134899.1:n.220+236_220+237del
NM_018960.6:c.206+236_206+237del MANE Select	NP_061833.1:n.206+236_206+237del
NM_001318856.2:c.9-1003_9-1002del	NP_001305785.1:n.9-1003_9-1002del
NM_001318857.2:c.152-1553_152-1552del	NP_001305786.1:n.152-1553_152-1552del
NM_001318858.2:c.152-1553_152-1552del	NP_001305787.1:n.152-1553_152-1552del
NM_001318865.2:c.206+236_206+237del	NP_001305794.1:n.206+236_206+237del
NR_134890.2:n.340-1553_340-1552del
NR_134891.2:n.243-1553_243-1552del
NR_134892.2:n.243-1003_243-1002del
NR_134899.2:n.220+236_220+237del