Linked Data
ClinVar Variation Id:
525276
ClinVar RCV Id:
RCV000629327
dbSNP Id:
rs1554082872
gnomAD v4:
5-13865865-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13865866del , CM000667.2:g.13865866del | GRCh38 |
| NC_000005.9:g.13865975del , CM000667.1:g.13865975del | GRCh37 |
| NC_000005.8:g.13918975del | NCBI36 |
| NG_013081.1:g.83615del | |
| NG_013081.2:g.83615del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.4157del MANE Select | ENSP00000265104.4:p.Thr1386MetfsTer20 | |
| ENST00000681290.1:c.4112del | ENSP00000505288.1:p.Thr1371MetfsTer20 | |
| ENST00000265104.4:c.4157del | ENSP00000265104.4:p.Thr1386MetfsTer20 | |
| NM_001369.2:c.4157del | NP_001360.1:p.Thr1386MetfsTer20 | |
| XM_005248262.2:c.4112del | XP_005248319.1:p.Thr1371MetfsTer20 | |
| XM_011513990.1:c.4157del | XP_011512292.1:p.Thr1386MetfsTer20 | |
| XR_925598.1:n.4364del | ||
| XM_005248262.3:c.4265del | XP_005248319.2:p.Thr1422MetfsTer20 | |
| XM_017009177.1:c.4265del | XP_016864666.1:p.Thr1422MetfsTer20 | |
| XM_017009178.1:c.3170del | XP_016864667.1:p.Thr1057MetfsTer20 | |
| XM_017009179.2:c.3170del | XP_016864668.1:p.Thr1057MetfsTer20 | |
| XM_017009180.1:c.4265del | XP_016864669.1:p.Thr1422MetfsTer20 | |
| XM_017009181.1:c.4265del | XP_016864670.1:p.Thr1422MetfsTer20 | |
| XM_017009182.1:c.4265del | XP_016864671.1:p.Thr1422MetfsTer20 | |
| XM_017009183.1:c.4265del | XP_016864672.1:p.Thr1422MetfsTer20 | |
| XM_017009184.1:c.4265del | XP_016864673.1:p.Thr1422MetfsTer20 | |
| XM_017009187.1:c.4265del | XP_016864676.1:p.Thr1422MetfsTer20 | |
| XM_024454388.1:c.3170del | XP_024310156.1:p.Thr1057MetfsTer20 | |
| XM_024454389.1:c.2759del | XP_024310157.1:p.Thr920MetfsTer20 | |
| XR_001742034.1:n.4282del | ||
| XR_001742035.1:n.4282del | ||
| NM_001369.3:c.4157del MANE Select | NP_001360.1:p.Thr1386MetfsTer20 |