Canonical Allele Identifier: CA1557732017
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114790_79114794delinsTGAGA , CM000667.2:g.79114790_79114794delinsTGAGA GRCh38
NC_000005.9:g.78410613_78410617delinsTGAGA , CM000667.1:g.78410613_78410617delinsTGAGA GRCh37
NC_000005.8:g.78446369_78446373delinsTGAGA NCBI36
NG_029156.1:g.8010_8014delinsTGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.34-977_34-973delinsTGAGA (BHMT) MANE Select ENSP00000274353.5:n.34-977_34-973delinsTG...
ENST00000274353.9:c.34-977_34-973delinsTGAGA (BHMT) ENSP00000274353.5:n.34-977_34-973delinsTG...
ENST00000520335.5:n.111-977_111-973delinsTGAGA (BHMT)
ENST00000520388.5:n.491+5547_491+5551delinsTCTCA (DMGDH)
ENST00000520703.1:n.111-977_111-973delinsTGAGA (BHMT)
ENST00000524080.1:c.34-977_34-973delinsTGAGA (BHMT) ENSP00000428240.1:n.34-977_34-973delinsTG...
NM_001713.2:c.34-977_34-973delinsTGAGA (BHMT) NP_001704.2:n.34-977_34-973delinsTGAGA
NM_001713.3:c.34-977_34-973delinsTGAGA (BHMT) MANE Select NP_001704.2:n.34-977_34-973delinsTGAGA
Search 100 bp 5'
Search 100 bp 3'