Linked Data
ClinVar Variation Id:
375564
ClinVar RCV Id:
RCV000417052
dbSNP Id:
rs1057519570
PubMed:
PMID:28017374
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68174095del , CM000672.2:g.68174095del | GRCh38 |
| NC_000010.10:g.69933852del , CM000672.1:g.69933852del | GRCh37 |
| NC_000010.9:g.69603858del | NCBI36 |
| NG_032118.1:g.72979del , LRG_410:g.72979del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354393.7:c.1178del | ENSP00000346369.2:p.Asn393ThrfsTer25 | |
| ENST00000540630.6:c.2057del | ENSP00000441668.3:p.Asn686ThrfsTer25 | |
| ENST00000613327.5:c.2003del | ENSP00000480757.2:p.Asn668ThrfsTer25 | |
| ENST00000688812.1:c.1979del | ENSP00000510658.1:p.Asn660ThrfsTer25 | |
| ENST00000690544.1:c.*1274del | ENSP00000508989.1:n.*1274del | |
| ENST00000358913.10:c.2003del MANE Select | ENSP00000351790.5:p.Asn668ThrfsTer25 | |
| ENST00000354393.6:c.1178del | ENSP00000346369.2:p.Asn393ThrfsTer25 | |
| ENST00000358913.9:c.2003del | ENSP00000351790.5:p.Asn668ThrfsTer25 | |
| ENST00000540630.5:c.2003del | ENSP00000441668.2:p.Asn668ThrfsTer25 | |
| ENST00000613327.4:c.1121del | ENSP00000480757.1:p.Asn374ThrfsTer25 | |
| NM_001256267.1:c.2003del | NP_001243196.1:p.Asn668ThrfsTer25 | |
| NM_001256268.1:c.1121del | NP_001243197.1:p.Asn374ThrfsTer25 | |
| NM_032578.3:c.2003del , LRG_410t1:c.2003del | NP_115967.2:p.Asn668ThrfsTer25 | |
| NR_045662.3:n.1430del | ||
| NR_045663.3:n.2271del | ||
| XM_006718043.2:c.2057del | XP_006718106.1:p.Asn686ThrfsTer25 | |
| XM_011540292.1:c.2033del | XP_011538594.1:p.Asn678ThrfsTer25 | |
| XM_017016833.1:c.2081del | XP_016872322.1:p.Asn694ThrfsTer25 | |
| XM_017016834.2:c.2003del | XP_016872323.1:p.Asn668ThrfsTer25 | |
| XM_024448236.1:c.881del | XP_024304004.1:p.Asn294ThrfsTer25 | |
| NR_045662.4:n.1540del | ||
| NR_045663.4:n.2216del | ||
| NM_001256267.2:c.2003del | NP_001243196.1:p.Asn668ThrfsTer25 | |
| NM_001256268.2:c.1121del | NP_001243197.1:p.Asn374ThrfsTer25 | |
| NM_032578.4:c.2003del MANE Select | NP_115967.2:p.Asn668ThrfsTer25 |