UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
144068
ClinVar RCV Id:
RCV000133580
dbSNP Id:
rs587777667
PubMed:
PMID:24424123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123256943_123256947del , CM000674.2:g.123256943_123256947del | GRCh38 |
| NC_000012.11:g.123741490_123741494del , CM000674.1:g.123741490_123741494del | GRCh37 |
| NC_000012.10:g.122307443_122307447del | NCBI36 |
| NG_027517.1:g.28647_28651del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253233.6:c.413_417del (MTRFR) MANE Select | ENSP00000253233.1:p.Lys138ArgfsTer17 | |
| ENST00000366329.7:c.413_417del (MTRFR) | ENSP00000390647.1:p.Lys138ArgfsTer17 | |
| ENST00000425637.3:c.*1130_*1134del (MTRFR) | ENSP00000506680.1:n.*1130_*1134del | |
| ENST00000536130.2:c.413_417del (MTRFR) | ENSP00000443072.2:p.Lys138ArgfsTer17 | |
| ENST00000538888.6:c.*296_*300del (MTRFR) | ENSP00000505059.1:n.*296_*300del | |
| ENST00000541002.7:n.809+2098_809+2102del | ||
| ENST00000543139.2:c.413_417del (MTRFR) | ENSP00000444843.2:p.Lys138ArgfsTer17 | |
| ENST00000543217.6:n.280+2098_280+2102del | ||
| ENST00000652466.1:c.*955+3329_*955+3333del (CDK2AP1) | ENSP00000498286.1:n.*955+3329_*955+3333del | |
| ENST00000679849.1:c.413_417del (MTRFR) | ENSP00000505808.1:p.Lys138ArgfsTer17 | |
| ENST00000680325.1:c.*801_*805del (MTRFR) | ENSP00000505277.1:n.*801_*805del | |
| ENST00000253233.5:c.413_417del (MTRFR) | ENSP00000253233.1:p.Lys138ArgfsTer17 | |
| ENST00000366329.6:c.413_417del (MTRFR) | ENSP00000390647.1:p.Lys138ArgfsTer17 | |
| ENST00000425637.2:n.1613_1617del (MTRFR) | ||
| ENST00000429587.2:c.413_417del (MTRFR) | ENSP00000391513.2:p.Lys138ArgfsTer17 | |
| NM_001143905.2:c.413_417del (MTRFR) | NP_001137377.1:p.Lys138ArgfsTer17 | |
| NM_001194995.1:c.413_417del (MTRFR) | NP_001181924.1:p.Lys138ArgfsTer17 | |
| NM_152269.4:c.413_417del (MTRFR) | NP_689482.1:p.Lys138ArgfsTer17 | |
| XM_005253630.3:c.413_417del (MTRFR) | XP_005253687.1:p.Lys138ArgfsTer17 | |
| XM_011538980.1:c.413_417del (MTRFR) | XP_011537282.1:p.Lys138ArgfsTer17 | |
| XM_011538981.1:c.413_417del (MTRFR) | XP_011537283.1:p.Lys138ArgfsTer17 | |
| XM_011538982.1:c.413_417del (MTRFR) | XP_011537284.1:p.Lys138ArgfsTer17 | |
| XR_945472.1:n.186+2098_186+2102del | ||
| XM_005253630.4:c.413_417del (MTRFR) | XP_005253687.1:p.Lys138ArgfsTer17 | |
| XM_011538980.3:c.413_417del (MTRFR) | XP_011537282.1:p.Lys138ArgfsTer17 | |
| XM_024449273.1:c.413_417del (MTRFR) | XP_024305041.1:p.Lys138ArgfsTer17 | |
| NM_152269.5:c.413_417del (MTRFR) MANE Select | NP_689482.1:p.Lys138ArgfsTer17 |