Linked Data
ClinVar Variation Id:
208188
ClinVar RCV Id:
RCV000190384
dbSNP Id:
rs763726268
ExAC:
5:78426913 GA / G
gnomAD v2:
5-78426913-GA-G
gnomAD v3:
5-79131090-GA-G
gnomAD v4:
5-79131090-GA-G
MyVariant Identifiers:
chr5:g.78426914del (hg19)
chr5:g.79131092del (hg38)
chr5:g.79131091del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79131095del , CM000667.2:g.79131095del | GRCh38 |
| NC_000005.9:g.78426918del , CM000667.1:g.78426918del | GRCh37 |
| NC_000005.8:g.78462674del | NCBI36 |
| NG_029156.1:g.24315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.1200del (BHMT) MANE Select | ENSP00000274353.5:p.Lys400AsnfsTer15 | |
| ENST00000274353.9:c.1200del (BHMT) | ENSP00000274353.5:p.Lys400AsnfsTer15 | |
| ENST00000518707.1:n.129-9739del (DMGDH) | ||
| ENST00000520388.5:n.229-9739del (DMGDH) | ||
| ENST00000524080.1:c.741del (BHMT) | ENSP00000428240.1:p.Lys247AsnfsTer15 | |
| NM_001713.2:c.1200del (BHMT) | NP_001704.2:p.Lys400AsnfsTer15 | |
| NM_001713.3:c.1200del (BHMT) MANE Select | NP_001704.2:p.Lys400AsnfsTer15 |