Canonical Allele Identifier: CA566785142

Gene: GNMT

Linked Data

• dbSNP Id: rs1370859721
• gnomAD v2: 6-42928948-CTGAG-C
• gnomAD v3: 6-42961210-CTGAG-C
• gnomAD v4: 6-42961210-CTGAG-C
• MyVariant Identifiers: chr6:g.42928949_42928952del (hg19) ; chr6:g.42961211_42961214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42961213_42961216del , CM000668.2:g.42961213_42961216del	GRCh38
NC_000006.11:g.42928951_42928954del , CM000668.1:g.42928951_42928954del	GRCh37
NC_000006.10:g.43036929_43036932del	NCBI36
NG_008396.1:g.5452_5455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.206+240_206+243del MANE Select	ENSP00000361894.3:n.206+240_206+243del
ENST00000372808.3:c.206+240_206+243del	ENSP00000361894.3:n.206+240_206+243del
NM_018960.4:c.206+240_206+243del	NP_061833.1:n.206+240_206+243del
XM_011514493.1:c.-13-999_-13-996del	XP_011512795.1:n.-13-999_-13-996del
XM_011514494.1:c.-13-999_-13-996del	XP_011512796.1:n.-13-999_-13-996del
NM_001318856.1:c.9-999_9-996del	NP_001305785.1:n.9-999_9-996del
NM_001318857.1:c.152-1549_152-1546del	NP_001305786.1:n.152-1549_152-1546del
NM_001318858.1:c.152-1549_152-1546del	NP_001305787.1:n.152-1549_152-1546del
NM_001318865.1:c.206+240_206+243del	NP_001305794.1:n.206+240_206+243del
NM_018960.5:c.206+240_206+243del	NP_061833.1:n.206+240_206+243del
NR_134890.1:n.690-1549_690-1546del
NR_134891.1:n.593-1549_593-1546del
NR_134892.1:n.593-999_593-996del
NR_134899.1:n.220+240_220+243del
NM_018960.6:c.206+240_206+243del MANE Select	NP_061833.1:n.206+240_206+243del
NM_001318856.2:c.9-999_9-996del	NP_001305785.1:n.9-999_9-996del
NM_001318857.2:c.152-1549_152-1546del	NP_001305786.1:n.152-1549_152-1546del
NM_001318858.2:c.152-1549_152-1546del	NP_001305787.1:n.152-1549_152-1546del
NM_001318865.2:c.206+240_206+243del	NP_001305794.1:n.206+240_206+243del
NR_134890.2:n.340-1549_340-1546del
NR_134891.2:n.243-1549_243-1546del
NR_134892.2:n.243-999_243-996del
NR_134899.2:n.220+240_220+243del