Canonical Allele Identifier: CA560510882
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1561255594
gnomAD v2: 5-78422511-G-GCTCA
gnomAD v3: 5-79126688-G-GCTCA
gnomAD v4: 5-79126688-G-GCTCA
MyVariant Identifiers: chr5:g.78422511_78422512insCTCA (hg19) chr5:g.79126688_79126689insCTCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126689_79126692dup , CM000667.2:g.79126689_79126692dup GRCh38
NC_000005.9:g.78422512_78422515dup , CM000667.1:g.78422512_78422515dup GRCh37
NC_000005.8:g.78458268_78458271dup NCBI36
NG_029156.1:g.19909_19912dup

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+461_808+464dup (BHMT) MANE Select ENSP00000274353.5:n.808+461_808+464dup
ENST00000274353.9:c.808+461_808+464dup (BHMT) ENSP00000274353.5:n.808+461_808+464dup
ENST00000518707.1:n.129-5340_129-5337dup (DMGDH)
ENST00000520388.5:n.229-5340_229-5337dup (DMGDH)
ENST00000521279.1:n.268+461_268+464dup (BHMT)
ENST00000524080.1:c.349+461_349+464dup (BHMT) ENSP00000428240.1:n.349+461_349+464dup
NM_001713.2:c.808+461_808+464dup (BHMT) NP_001704.2:n.808+461_808+464dup
NM_001713.3:c.808+461_808+464dup (BHMT) MANE Select NP_001704.2:n.808+461_808+464dup
Search 100 bp 5'
Search 100 bp 3'