Linked Data
ClinVar Variation Id:
372204
ClinVar RCV Id:
RCV000412511
dbSNP Id:
rs1057518744
PubMed:
PMID:27930337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17108521_17108537dup , CM000684.2:g.17108521_17108537dup | GRCh38 |
| NC_000022.10:g.17589411_17589427dup , CM000684.1:g.17589411_17589427dup | GRCh37 |
| NC_000022.9:g.15969411_15969427dup | NCBI36 |
| NG_028257.1:g.28561_28577dup , LRG_355:g.28561_28577dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612619.2:c.1200_1216dup | ENSP00000479970.1:p.Asn406ArgfsTer? | |
| ENST00000319363.11:c.1302_1318dup MANE Select | ENSP00000320936.6:p.Asn440ArgfsTer? | |
| ENST00000319363.10:c.1302_1318dup | ENSP00000320936.6:p.Asn440ArgfsTer? | |
| ENST00000612619.1:c.1200_1216dup | ENSP00000479970.1:p.Asn406ArgfsTer? | |
| NM_001289905.1:c.1200_1216dup | NP_001276834.1:p.Asn406ArgfsTer? | |
| NM_014339.6:c.1302_1318dup , LRG_355t1:c.1302_1318dup | NP_055154.3:p.Asn440ArgfsTer? | |
| NM_014339.7:c.1302_1318dup MANE Select | NP_055154.3:p.Asn440ArgfsTer? | |
| NM_001289905.2:c.1200_1216dup | NP_001276834.1:p.Asn406ArgfsTer? |