Canonical Allele Identifier: CA645567919

Gene: BHMT DMGDH

Linked Data

• COSMIC: COSM1159063

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120535_79120536del , CM000667.2:g.79120535_79120536del	GRCh38
NC_000005.9:g.78416358_78416359del , CM000667.1:g.78416358_78416359del	GRCh37
NC_000005.8:g.78452114_78452115del	NCBI36
NG_029156.1:g.13755_13756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.471_472del (BHMT) MANE Select	ENSP00000274353.5:p.Ala158ArgfsTer4
ENST00000274353.9:c.471_472del (BHMT)	ENSP00000274353.5:p.Ala158ArgfsTer4
ENST00000518707.1:n.279-83_279-82del (DMGDH)
ENST00000520388.5:n.379-83_379-82del (DMGDH)
ENST00000523508.1:n.184_185del (BHMT)
ENST00000524080.1:c.166+4636_166+4637del (BHMT)	ENSP00000428240.1:n.166+4636_166+4637del
NM_001713.2:c.471_472del (BHMT)	NP_001704.2:p.Ala158ArgfsTer4
NM_001713.3:c.471_472del (BHMT) MANE Select	NP_001704.2:p.Ala158ArgfsTer4