Linked Data
dbSNP Id:
rs2048189025
gnomAD v3:
12-123256947-AGAAAG-A
gnomAD v4:
12-123256947-AGAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123256952_123256956del , CM000674.2:g.123256952_123256956del | GRCh38 |
| NC_000012.11:g.123741499_123741503del , CM000674.1:g.123741499_123741503del | GRCh37 |
| NC_000012.10:g.122307452_122307456del | NCBI36 |
| NG_027517.1:g.28656_28660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253233.6:c.422_426del (MTRFR) MANE Select | ENSP00000253233.1:p.Arg141LysfsTer14 | |
| ENST00000366329.7:c.422_426del (MTRFR) | ENSP00000390647.1:p.Arg141LysfsTer14 | |
| ENST00000425637.3:c.*1139_*1143del (MTRFR) | ENSP00000506680.1:n.*1139_*1143del | |
| ENST00000536130.2:c.422_426del (MTRFR) | ENSP00000443072.2:p.Arg141LysfsTer14 | |
| ENST00000538888.6:c.*305_*309del (MTRFR) | ENSP00000505059.1:n.*305_*309del | |
| ENST00000541002.7:n.809+2091_809+2095del | ||
| ENST00000543139.2:c.422_426del (MTRFR) | ENSP00000444843.2:p.Arg141LysfsTer14 | |
| ENST00000543217.6:n.280+2091_280+2095del | ||
| ENST00000652466.1:c.*955+3322_*955+3326del (CDK2AP1) | ENSP00000498286.1:n.*955+3322_*955+3326del | |
| ENST00000679849.1:c.422_426del (MTRFR) | ENSP00000505808.1:p.Arg141LysfsTer14 | |
| ENST00000680325.1:c.*810_*814del (MTRFR) | ENSP00000505277.1:n.*810_*814del | |
| ENST00000253233.5:c.422_426del (MTRFR) | ENSP00000253233.1:p.Arg141LysfsTer14 | |
| ENST00000366329.6:c.422_426del (MTRFR) | ENSP00000390647.1:p.Arg141LysfsTer14 | |
| ENST00000425637.2:n.1622_1626del (MTRFR) | ||
| ENST00000429587.2:c.422_426del (MTRFR) | ENSP00000391513.2:p.Arg141LysfsTer14 | |
| NM_001143905.2:c.422_426del (MTRFR) | NP_001137377.1:p.Arg141LysfsTer14 | |
| NM_001194995.1:c.422_426del (MTRFR) | NP_001181924.1:p.Arg141LysfsTer14 | |
| NM_152269.4:c.422_426del (MTRFR) | NP_689482.1:p.Arg141LysfsTer14 | |
| XM_005253630.3:c.422_426del (MTRFR) | XP_005253687.1:p.Arg141LysfsTer14 | |
| XM_011538980.1:c.422_426del (MTRFR) | XP_011537282.1:p.Arg141LysfsTer14 | |
| XM_011538981.1:c.422_426del (MTRFR) | XP_011537283.1:p.Arg141LysfsTer14 | |
| XM_011538982.1:c.422_426del (MTRFR) | XP_011537284.1:p.Arg141LysfsTer14 | |
| XR_945472.1:n.186+2091_186+2095del | ||
| XM_005253630.4:c.422_426del (MTRFR) | XP_005253687.1:p.Arg141LysfsTer14 | |
| XM_011538980.3:c.422_426del (MTRFR) | XP_011537282.1:p.Arg141LysfsTer14 | |
| XM_024449273.1:c.422_426del (MTRFR) | XP_024305041.1:p.Arg141LysfsTer14 | |
| NM_152269.5:c.422_426del (MTRFR) MANE Select | NP_689482.1:p.Arg141LysfsTer14 |