Linked Data
dbSNP Id:
rs751013806
ExAC:
1:11334108 TAC / T
gnomAD v2:
1-11334108-TAC-T
gnomAD v4:
1-11274051-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11274055_11274056del , CM000663.2:g.11274055_11274056del | GRCh38 |
| NC_000001.10:g.11334112_11334113del , CM000663.1:g.11334112_11334113del | GRCh37 |
| NC_000001.9:g.11256699_11256700del | NCBI36 |
| NG_009443.1:g.5858_5859del | |
| NG_009443.2:g.5858_5859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.524_525del MANE Select | ENSP00000366006.5:p.Thr175ArgfsTer? | |
| ENST00000376804.2:c.524_525del | ENSP00000366000.1:p.Thr175ArgfsTer26 | |
| ENST00000376810.5:c.524_525del | ENSP00000366006.5:p.Thr175ArgfsTer? | |
| ENST00000483738.1:c.122_123del | ENSP00000473453.1:p.Thr41ArgfsTer? | |
| ENST00000486588.6:c.167_168del | ENSP00000473612.1:p.Thr56ArgfsTer? | |
| NM_013319.2:c.524_525del | NP_037451.1:p.Thr175ArgfsTer? | |
| XM_006710590.2:c.524_525del | XP_006710653.1:p.Thr175ArgfsTer? | |
| XM_011541304.1:c.524_525del | XP_011539606.1:p.Thr175ArgfsTer26 | |
| XR_946616.1:n.858_859del | ||
| NM_001330349.1:c.524_525del | NP_001317278.1:p.Thr175ArgfsTer? | |
| NM_001330350.1:c.524_525del | NP_001317279.1:p.Thr175ArgfsTer26 | |
| XR_946616.3:n.858_859del | ||
| NM_001330349.2:c.524_525del | NP_001317278.1:p.Thr175ArgfsTer? | |
| NM_001330350.2:c.524_525del | NP_001317279.1:p.Thr175ArgfsTer26 | |
| NM_013319.3:c.524_525del MANE Select | NP_037451.1:p.Thr175ArgfsTer? |