Canonical Allele Identifier: CA2674379136

Gene: BHMT DMGDH

Linked Data

• gnomAD v4: 5-79120678-C-CACTCTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120678_79120679insACTCTTG , CM000667.2:g.79120678_79120679insACTCTTG	GRCh38
NC_000005.9:g.78416501_78416502insACTCTTG , CM000667.1:g.78416501_78416502insACTCTTG	GRCh37
NC_000005.8:g.78452257_78452258insACTCTTG	NCBI36
NG_029156.1:g.13898_13899insACTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.477+137_477+138insACTCTTG (BHMT) MANE Select	ENSP00000274353.5:n.477+137_477+138insACTCTTG
ENST00000274353.9:c.477+137_477+138insACTCTTG (BHMT)	ENSP00000274353.5:n.477+137_477+138insACTCTTG
ENST00000518707.1:n.279-226_279-225insCAAGAGT (DMGDH)
ENST00000520388.5:n.379-226_379-225insCAAGAGT (DMGDH)
ENST00000523508.1:n.190+137_190+138insACTCTTG (BHMT)
ENST00000524080.1:c.166+4779_166+4780insACTCTTG (BHMT)	ENSP00000428240.1:n.166+4779_166+4780insACTCTTG
NM_001713.2:c.477+137_477+138insACTCTTG (BHMT)	NP_001704.2:n.477+137_477+138insACTCTTG
NM_001713.3:c.477+137_477+138insACTCTTG (BHMT) MANE Select	NP_001704.2:n.477+137_477+138insACTCTTG