Canonical Allele Identifier: CA2678789557

Gene: GNMT

Linked Data

• gnomAD v4: 6-42960985-C-CCGGGGCCGGGGGCGTTGCATGAGATCGGGGTCTGTCTCAGCCTGTACTGCGCGGCCGCAGAACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42960987_42961051dup , CM000668.2:g.42960987_42961051dup	GRCh38
NC_000006.11:g.42928725_42928789dup , CM000668.1:g.42928725_42928789dup	GRCh37
NC_000006.10:g.43036703_43036767dup	NCBI36
NG_008396.1:g.5226_5290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372808.4:c.206+14_206+78dup MANE Select	ENSP00000361894.3:n.206+14_206+78dup
ENST00000372808.3:c.206+14_206+78dup	ENSP00000361894.3:n.206+14_206+78dup
NM_018960.4:c.206+14_206+78dup	NP_061833.1:n.206+14_206+78dup
XM_011514493.1:c.-13-1225_-13-1161dup	XP_011512795.1:n.-13-1225_-13-1161dup
XM_011514494.1:c.-13-1225_-13-1161dup	XP_011512796.1:n.-13-1225_-13-1161dup
NM_001318856.1:c.9-1225_9-1161dup	NP_001305785.1:n.9-1225_9-1161dup
NM_001318857.1:c.152-1775_152-1711dup	NP_001305786.1:n.152-1775_152-1711dup
NM_001318858.1:c.152-1775_152-1711dup	NP_001305787.1:n.152-1775_152-1711dup
NM_001318865.1:c.206+14_206+78dup	NP_001305794.1:n.206+14_206+78dup
NM_018960.5:c.206+14_206+78dup	NP_061833.1:n.206+14_206+78dup
NR_134890.1:n.690-1775_690-1711dup
NR_134891.1:n.593-1775_593-1711dup
NR_134892.1:n.593-1225_593-1161dup
NR_134899.1:n.220+14_220+78dup
NM_018960.6:c.206+14_206+78dup MANE Select	NP_061833.1:n.206+14_206+78dup
NM_001318856.2:c.9-1225_9-1161dup	NP_001305785.1:n.9-1225_9-1161dup
NM_001318857.2:c.152-1775_152-1711dup	NP_001305786.1:n.152-1775_152-1711dup
NM_001318858.2:c.152-1775_152-1711dup	NP_001305787.1:n.152-1775_152-1711dup
NM_001318865.2:c.206+14_206+78dup	NP_001305794.1:n.206+14_206+78dup
NR_134890.2:n.340-1775_340-1711dup
NR_134891.2:n.243-1775_243-1711dup
NR_134892.2:n.243-1225_243-1161dup
NR_134899.2:n.220+14_220+78dup