Linked Data
ClinVar Variation Id:
56486
ClinVar RCV Id:
RCV000049899
dbSNP Id:
rs386833925
PubMed:
PMID:18503012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35841756_35841762del , CM000681.2:g.35841756_35841762del | GRCh38 |
| NC_000019.9:g.36332658_36332664del , CM000681.1:g.36332658_36332664del | GRCh37 |
| NC_000019.8:g.41024498_41024504del | NCBI36 |
| NG_013356.2:g.32528_32534del , LRG_693:g.32528_32534del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.2770_2776del MANE Select | ENSP00000368190.4:p.Asn924LeufsTer22 | |
| ENST00000353632.6:c.2770_2776del | ENSP00000343634.5:p.Asn924LeufsTer22 | |
| ENST00000378910.9:c.2770_2776del | ENSP00000368190.4:p.Asn924LeufsTer22 | |
| NM_004646.3:c.2770_2776del , LRG_693t1:c.2770_2776del | NP_004637.1:p.Asn924LeufsTer22 | |
| NM_004646.4:c.2770_2776del MANE Select | NP_004637.1:p.Asn924LeufsTer22 |