Linked Data
ClinVar Variation Id:
371717
ClinVar RCV Id:
RCV003766134
dbSNP Id:
rs1057517482
gnomAD v4:
5-149981239-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981242del , CM000667.2:g.149981242del | GRCh38 |
| NC_000005.9:g.149360805del , CM000667.1:g.149360805del | GRCh37 |
| NC_000005.8:g.149340998del | NCBI36 |
| NG_007147.2:g.22360del , LRG_684:g.22360del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.1649del MANE Select | ENSP00000286298.4:p.Lys550ArgfsTer? | |
| ENST00000286298.4:c.1649del | ENSP00000286298.4:p.Lys550ArgfsTer? | |
| ENST00000503336.1:c.372+2891del | ENSP00000426053.1:n.372+2891del | |
| NM_000112.3:c.1649del , LRG_684t1:c.1649del | NP_000103.2:p.Lys550ArgfsTer? | |
| XM_017009191.2:c.1649del | XP_016864680.1:p.Lys550ArgfsTer? | |
| NM_000112.4:c.1649del MANE Select | NP_000103.2:p.Lys550ArgfsTer? |