Linked Data
ClinVar Variation Id:
2852646
ClinVar RCV Id:
RCV003747695
dbSNP Id:
rs777633076
ExAC:
5:160758137 G / GA
gnomAD v2:
5-160758137-G-GA
gnomAD v3:
5-161331130-G-GA
gnomAD v4:
5-161331130-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161331138dup , CM000667.2:g.161331138dup | GRCh38 |
| NC_000005.9:g.160758145dup , CM000667.1:g.160758145dup | GRCh37 |
| NC_000005.8:g.160690723dup | NCBI36 |
| NG_047050.1:g.221994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.833-4dup | ENSP00000274547.2:n.833-4dup | |
| ENST00000393959.6:c.833-4dup MANE Select | ENSP00000377531.1:n.833-4dup | |
| ENST00000674514.1:n.915-4dup | ||
| ENST00000675081.1:c.*292-4dup | ENSP00000502207.1:n.*292-4dup | |
| ENST00000675303.1:c.833-4dup | ENSP00000502748.1:n.833-4dup | |
| ENST00000675381.1:c.581-4dup | ENSP00000501968.1:n.581-4dup | |
| ENST00000675746.1:c.83-4dup | ENSP00000502391.1:n.83-4dup | |
| ENST00000675773.1:c.833-4dup | ENSP00000502701.1:n.833-4dup | |
| ENST00000274547.6:c.833-4dup | ENSP00000274547.2:n.833-4dup | |
| ENST00000353437.10:c.833-4dup | ENSP00000274546.6:n.833-4dup | |
| ENST00000393959.5:c.833-4dup | ENSP00000377531.1:n.833-4dup | |
| ENST00000517547.5:c.353-4dup | ENSP00000429750.1:n.353-4dup | |
| ENST00000517901.5:c.644-4dup | ENSP00000430532.1:n.644-4dup | |
| ENST00000520240.5:c.833-4dup | ENSP00000429320.1:n.833-4dup | |
| ENST00000612710.1:c.644-4dup | ENSP00000480066.1:n.644-4dup | |
| NM_000813.2:c.833-4dup | NP_000804.1:n.833-4dup | |
| NM_021911.2:c.833-4dup | NP_068711.1:n.833-4dup | |
| XM_011534501.1:c.83-4dup | XP_011532803.1:n.83-4dup | |
| NM_000813.3:c.833-4dup | NP_000804.1:n.833-4dup | |
| NM_001371727.1:c.833-4dup MANE Select | NP_001358656.1:n.833-4dup | |
| NM_021911.3:c.833-4dup | NP_068711.1:n.833-4dup |