Linked Data
ClinVar Variation Id:
410240
dbSNP Id:
rs763170019
gnomAD v2:
10-121431805-ATCC-A
gnomAD v3:
10-119672293-ATCC-A
gnomAD v4:
10-119672293-ATCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672299_119672301del , CM000672.2:g.119672299_119672301del | GRCh38 |
| NC_000010.10:g.121431811_121431813del , CM000672.1:g.121431811_121431813del | GRCh37 |
| NC_000010.9:g.121421801_121421803del | NCBI36 |
| NG_016125.1:g.25930_25932del , LRG_742:g.25930_25932del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.552_554del MANE Select | ENSP00000358081.4:p.Ser185del | |
| ENST00000369085.7:c.552_554del | ENSP00000358081.3:p.Ser185del | |
| ENST00000450186.1:c.378_380del | ENSP00000410036.1:p.Ser127del | |
| NM_004281.3:c.552_554del , LRG_742t1:c.552_554del | NP_004272.2:p.Ser185del | |
| XM_005270287.1:c.552_554del | XP_005270344.1:p.Ser185del | |
| XM_005270287.2:c.552_554del | XP_005270344.1:p.Ser185del | |
| NM_004281.4:c.552_554del MANE Select | NP_004272.2:p.Ser185del |