Canonical Allele Identifier: CA2678789552

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960982-AGGCCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960991_42960996del , CM000668.2:g.42960991_42960996del	GRCh38
NC_000006.11:g.42928729_42928734del , CM000668.1:g.42928729_42928734del	GRCh37
NC_000006.10:g.43036707_43036712del	NCBI36
NG_008396.1:g.5230_5235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.206+18_206+23del MANE Select	ENSP00000361894.3:n.206+18_206+23del
ENST00000372808.3:c.206+18_206+23del	ENSP00000361894.3:n.206+18_206+23del
NM_018960.4:c.206+18_206+23del	NP_061833.1:n.206+18_206+23del
XM_011514493.1:c.-13-1221_-13-1216del	XP_011512795.1:n.-13-1221_-13-1216del
XM_011514494.1:c.-13-1221_-13-1216del	XP_011512796.1:n.-13-1221_-13-1216del
NM_001318856.1:c.9-1221_9-1216del	NP_001305785.1:n.9-1221_9-1216del
NM_001318857.1:c.152-1771_152-1766del	NP_001305786.1:n.152-1771_152-1766del
NM_001318858.1:c.152-1771_152-1766del	NP_001305787.1:n.152-1771_152-1766del
NM_001318865.1:c.206+18_206+23del	NP_001305794.1:n.206+18_206+23del
NM_018960.5:c.206+18_206+23del	NP_061833.1:n.206+18_206+23del
NR_134890.1:n.690-1771_690-1766del
NR_134891.1:n.593-1771_593-1766del
NR_134892.1:n.593-1221_593-1216del
NR_134899.1:n.220+18_220+23del
NM_018960.6:c.206+18_206+23del MANE Select	NP_061833.1:n.206+18_206+23del
NM_001318856.2:c.9-1221_9-1216del	NP_001305785.1:n.9-1221_9-1216del
NM_001318857.2:c.152-1771_152-1766del	NP_001305786.1:n.152-1771_152-1766del
NM_001318858.2:c.152-1771_152-1766del	NP_001305787.1:n.152-1771_152-1766del
NM_001318865.2:c.206+18_206+23del	NP_001305794.1:n.206+18_206+23del
NR_134890.2:n.340-1771_340-1766del
NR_134891.2:n.243-1771_243-1766del
NR_134892.2:n.243-1221_243-1216del
NR_134899.2:n.220+18_220+23del