Linked Data
dbSNP Id:
rs897694449
gnomAD v2:
1-156563811-GAGA-G
gnomAD v3:
1-156594019-GAGA-G
gnomAD v4:
1-156594019-GAGA-G
COSMIC:
COSM4662475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156594025_156594027del , CM000663.2:g.156594025_156594027del | GRCh38 |
| NC_000001.10:g.156563817_156563819del , CM000663.1:g.156563817_156563819del | GRCh37 |
| NC_000001.9:g.154830441_154830443del | NCBI36 |
| NG_052542.1:g.7260_7262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.808_810del MANE Select | ENSP00000357218.3:p.Lys270del | |
| ENST00000467374.2:n.1981_1983del | ||
| ENST00000679369.1:c.553+470_553+472del | ENSP00000505883.1:n.553+470_553+472del | |
| ENST00000679649.1:n.847_849del | ||
| ENST00000679702.1:c.808_810del | ENSP00000505913.1:p.Lys270del | |
| ENST00000679913.1:n.1012_1014del | ||
| ENST00000680004.1:c.808_810del | ENSP00000506275.1:p.Lys270del | |
| ENST00000680087.1:c.664+470_664+472del | ENSP00000505907.1:n.664+470_664+472del | |
| ENST00000680269.1:c.808_810del | ENSP00000505899.1:p.Lys270del | |
| ENST00000680529.1:n.992_994del | ||
| ENST00000680661.1:c.664+470_664+472del | ENSP00000505088.1:n.664+470_664+472del | |
| ENST00000681054.1:c.808_810del | ENSP00000506192.1:p.Lys270del | |
| ENST00000681523.1:c.808_810del | ENSP00000505349.1:p.Lys270del | |
| ENST00000681645.1:n.1173_1175del | ||
| ENST00000681734.1:c.745_747del | ENSP00000506177.1:p.Lys249del | |
| ENST00000681825.1:n.1349_1351del | ||
| ENST00000681922.1:n.1584_1586del | ||
| ENST00000368234.7:c.752_754del | ENSP00000357217.3:p.Glu251del | |
| ENST00000368235.7:c.808_810del | ENSP00000357218.3:p.Lys270del | |
| ENST00000488840.1:n.425_427del | ||
| NM_144772.2:c.808_810del | NP_658985.2:p.Lys270del | |
| XM_017000319.2:c.681+453_681+455del | XP_016855808.1:n.681+453_681+455del | |
| NM_144772.3:c.808_810del MANE Select | NP_658985.2:p.Lys270del |