Linked Data
ClinVar Variation Id:
91497
ClinVar RCV Id:
RCV000077014
dbSNP Id:
rs398122593
PubMed:
PMID:23285130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362606_32362607dup , CM000675.2:g.32362606_32362607dup | GRCh38 |
| NC_000013.10:g.32936743_32936744dup , CM000675.1:g.32936743_32936744dup | GRCh37 |
| NC_000013.9:g.31834743_31834744dup | NCBI36 |
| NG_012772.3:g.52127_52128dup , LRG_293:g.52127_52128dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7889_7890dup | ENSP00000434898.2:p.Leu2631AsnfsTer18 | |
| ENST00000528762.2:c.7889_7890dup | ENSP00000433168.2:p.Leu2631AsnfsTer18 | |
| ENST00000530893.7:c.7520_7521dup | ENSP00000499438.2:p.Leu2508AsnfsTer18 | |
| ENST00000665585.2:c.7889_7890dup | ENSP00000499570.2:p.Leu2631AsnfsTer18 | |
| ENST00000666593.2:c.7889_7890dup | ENSP00000499256.2:p.Leu2631AsnfsTer18 | |
| ENST00000700202.2:c.7889_7890dup | ENSP00000514856.2:p.Leu2631AsnfsTer18 | |
| ENST00000700202.1:c.356_357dup | ENSP00000514856.1:p.Leu120AsnfsTer18 | |
| ENST00000380152.8:c.7889_7890dup MANE Select | ENSP00000369497.3:p.Leu2631AsnfsTer18 | |
| ENST00000544455.6:c.7889_7890dup | ENSP00000439902.1:p.Leu2631AsnfsTer18 | |
| ENST00000614259.2:c.7897_7898dup | ENSP00000506251.1:p.Asn2633LysfsTer11 | |
| ENST00000665585.1:c.454_455dup | ||
| ENST00000680887.1:c.7889_7890dup | ENSP00000505508.1:p.Leu2631AsnfsTer18 | |
| ENST00000380152.7:c.7889_7890dup | ENSP00000369497.3:p.Leu2631AsnfsTer18 | |
| ENST00000544455.5:c.7889_7890dup | ENSP00000439902.1:p.Leu2631AsnfsTer18 | |
| ENST00000614259.1:n.7897_7898dup | ||
| NM_000059.3:c.7889_7890dup , LRG_293t1:c.7889_7890dup | NP_000050.2:p.Leu2631AsnfsTer18 | |
| XM_011535203.1:c.7889_7890dup | XP_011533505.1:p.Leu2631AsnfsTer18 | |
| XM_011535204.1:c.7793_7794dup | XP_011533506.1:p.Leu2599AsnfsTer18 | |
| XM_011535205.1:c.7889_7890dup | XP_011533507.1:p.Leu2631AsnfsTer18 | |
| NM_000059.4:c.7889_7890dup MANE Select | NP_000050.3:p.Leu2631AsnfsTer18 |