Canonical Allele Identifier: CA814312934

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1220001839
• gnomAD v3: 5-79114790-TGAGA-T
• gnomAD v4: 5-79114790-TGAGA-T
• MyVariant Identifiers: chr5:g.78410614_78410617del (hg19) ; chr5:g.79114791_79114794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79114797_79114800del , CM000667.2:g.79114797_79114800del	GRCh38
NC_000005.9:g.78410620_78410623del , CM000667.1:g.78410620_78410623del	GRCh37
NC_000005.8:g.78446376_78446379del	NCBI36
NG_029156.1:g.8017_8020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.34-970_34-967del (BHMT) MANE Select	ENSP00000274353.5:n.34-970_34-967del
ENST00000274353.9:c.34-970_34-967del (BHMT)	ENSP00000274353.5:n.34-970_34-967del
ENST00000520335.5:n.111-970_111-967del (BHMT)
ENST00000520388.5:n.491+5547_491+5550del (DMGDH)
ENST00000520703.1:n.111-970_111-967del (BHMT)
ENST00000524080.1:c.34-970_34-967del (BHMT)	ENSP00000428240.1:n.34-970_34-967del
NM_001713.2:c.34-970_34-967del (BHMT)	NP_001704.2:n.34-970_34-967del
NM_001713.3:c.34-970_34-967del (BHMT) MANE Select	NP_001704.2:n.34-970_34-967del