Canonical Allele Identifier: CA2674379091

Gene: BHMT DMGDH

Linked Data

• gnomAD v4: 5-79120651-GTAATATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120654_79120660del , CM000667.2:g.79120654_79120660del	GRCh38
NC_000005.9:g.78416477_78416483del , CM000667.1:g.78416477_78416483del	GRCh37
NC_000005.8:g.78452233_78452239del	NCBI36
NG_029156.1:g.13874_13880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.477+113_477+119del (BHMT) MANE Select	ENSP00000274353.5:n.477+113_477+119del
ENST00000274353.9:c.477+113_477+119del (BHMT)	ENSP00000274353.5:n.477+113_477+119del
ENST00000518707.1:n.279-205_279-199del (DMGDH)
ENST00000520388.5:n.379-205_379-199del (DMGDH)
ENST00000523508.1:n.190+113_190+119del (BHMT)
ENST00000524080.1:c.166+4755_166+4761del (BHMT)	ENSP00000428240.1:n.166+4755_166+4761del
NM_001713.2:c.477+113_477+119del (BHMT)	NP_001704.2:n.477+113_477+119del
NM_001713.3:c.477+113_477+119del (BHMT) MANE Select	NP_001704.2:n.477+113_477+119del