Linked Data
ClinVar Variation Id:
219193
ClinVar RCV Id:
RCV000203570
dbSNP Id:
rs864321694
PubMed:
PMID:25205402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70762984_70762985del , CM000669.2:g.70762984_70762985del | GRCh38 |
| NC_000007.13:g.70227970_70227971del , CM000669.1:g.70227970_70227971del | GRCh37 |
| NC_000007.12:g.69865906_69865907del | NCBI36 |
| NG_034133.1:g.1169066_1169067del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342771.10:c.857_858del MANE Select | ENSP00000344087.4:p.Lys286ArgfsTer5 | |
| ENST00000443672.2:c.-197-3130_-197-3129del | ENSP00000393548.2:n.-197-3130_-197-3129de... | |
| ENST00000644359.1:c.-515_-514del | ENSP00000494561.1:n.-515_-514del | |
| ENST00000644506.1:c.-515_-514del | ENSP00000496672.1:n.-515_-514del | |
| ENST00000644939.1:c.857_858del | ENSP00000496726.1:p.Lys286ArgfsTer5 | |
| ENST00000656200.1:c.-518_-517del | ENSP00000499508.1:n.-518_-517del | |
| ENST00000342771.8:c.857_858del | ENSP00000344087.4:p.Lys286ArgfsTer5 | |
| ENST00000406775.6:c.857_858del | ENSP00000385263.2:p.Lys286ArgfsTer5 | |
| ENST00000416482.1:c.198_199del | ||
| ENST00000611706.4:c.113_114del | ENSP00000478134.1:p.Lys38ArgfsTer5 | |
| ENST00000615871.4:c.113_114del | ENSP00000479325.1:p.Lys38ArgfsTer5 | |
| NM_001127231.2:c.857_858del | NP_001120703.1:p.Lys286ArgfsTer5 | |
| NM_015570.3:c.857_858del | NP_056385.1:p.Lys286ArgfsTer5 | |
| XM_011516010.1:c.857_858del | XP_011514312.1:p.Lys286ArgfsTer5 | |
| XM_011516011.1:c.857_858del | XP_011514313.1:p.Lys286ArgfsTer5 | |
| XM_011516012.1:c.857_858del | XP_011514314.1:p.Lys286ArgfsTer5 | |
| XM_011516013.1:c.857_858del | XP_011514315.1:p.Lys286ArgfsTer5 | |
| XM_011516014.1:c.857_858del | XP_011514316.1:p.Lys286ArgfsTer5 | |
| XM_011516015.1:c.857_858del | XP_011514317.1:p.Lys286ArgfsTer5 | |
| XM_011516016.1:c.566_567del | XP_011514318.1:p.Lys189ArgfsTer5 | |
| XM_011516017.1:c.383_384del | XP_011514319.1:p.Lys128ArgfsTer5 | |
| XM_011516018.1:c.356_357del | XP_011514320.1:p.Lys119ArgfsTer5 | |
| XM_011516010.2:c.857_858del | XP_011514312.1:p.Lys286ArgfsTer5 | |
| XM_011516011.2:c.857_858del | XP_011514313.1:p.Lys286ArgfsTer5 | |
| XM_011516012.2:c.857_858del | XP_011514314.1:p.Lys286ArgfsTer5 | |
| XM_011516013.2:c.857_858del | XP_011514315.1:p.Lys286ArgfsTer5 | |
| XM_011516014.2:c.857_858del | XP_011514316.1:p.Lys286ArgfsTer5 | |
| XM_011516017.2:c.383_384del | XP_011514319.1:p.Lys128ArgfsTer5 | |
| XM_011516018.2:c.356_357del | XP_011514320.1:p.Lys119ArgfsTer5 | |
| XM_017011951.2:c.857_858del | XP_016867440.1:p.Lys286ArgfsTer5 | |
| NM_001127231.3:c.857_858del | NP_001120703.1:p.Lys286ArgfsTer5 | |
| NM_015570.4:c.857_858del MANE Select | NP_056385.1:p.Lys286ArgfsTer5 |