Linked Data
ClinVar Variation Id:
2778464
ClinVar RCV Id:
RCV003757292
dbSNP Id:
rs774341682
gnomAD v2:
1-245027340-TTCCTCTTCC-T
gnomAD v4:
1-244864038-TTCCTCTTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864044_244864052del , CM000663.2:g.244864044_244864052del | GRCh38 |
| NC_000001.10:g.245027346_245027354del , CM000663.1:g.245027346_245027354del | GRCh37 |
| NC_000001.9:g.243093969_243093977del | NCBI36 |
| NG_042184.1:g.5479_5487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.261_269del | ENSP00000283179.10:p.Glu88_Glu90del | |
| ENST00000444376.7:c.261_269del | ENSP00000393151.2:p.Glu88_Glu90del | |
| ENST00000476241.2:n.446_454del | ||
| ENST00000638475.1:c.45_53del | ENSP00000491305.1:p.Glu16_Glu18del | |
| ENST00000638952.1:n.492_500del | ||
| ENST00000640218.2:c.261_269del MANE Select | ENSP00000491215.1:p.Glu88_Glu90del | |
| ENST00000640306.1:c.261_269del | ENSP00000491685.1:p.Glu88_Glu90del | |
| ENST00000649899.1:n.485_493del | ||
| ENST00000283179.13:c.261_269del | ENSP00000283179.9:p.Glu88_Glu90del | |
| ENST00000444376.6:c.261_269del | ENSP00000393151.2:p.Glu88_Glu90del | |
| ENST00000476241.1:n.445_453del | ||
| NM_004501.3:c.261_269del | NP_004492.2:p.Glu88_Glu90del | |
| NM_031844.2:c.261_269del | NP_114032.2:p.Glu88_Glu90del | |
| NM_031844.3:c.261_269del MANE Select | NP_114032.2:p.Glu88_Glu90del |