Linked Data
ClinVar Variation Id:
9504
ClinVar RCV Id:
RCV000010112
dbSNP Id:
rs387906415
PubMed:
PMID:11476965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104814169_104814172del , CM000671.2:g.104814169_104814172del | GRCh38 |
| NC_000009.11:g.107576450_107576453del , CM000671.1:g.107576450_107576453del | GRCh37 |
| NC_000009.10:g.106616271_106616274del | NCBI36 |
| NG_007981.1:g.118986_118989del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374736.8:c.3849_3852del MANE Select | ENSP00000363868.3:p.Pro1284SerfsTer14 | |
| ENST00000678995.1:c.3855_3858del | ENSP00000504612.1:p.Pro1286SerfsTer14 | |
| ENST00000374736.7:c.3849_3852del | ENSP00000363868.3:p.Pro1284SerfsTer14 | |
| NM_005502.3:c.3849_3852del | NP_005493.2:p.Pro1284SerfsTer14 | |
| XM_005251773.1:c.3855_3858del | XP_005251830.1:p.Pro1286SerfsTer14 | |
| XM_005251776.1:c.3675_3678del | XP_005251833.1:p.Pro1226SerfsTer14 | |
| XM_011518339.1:c.3930_3933del | XP_011516641.1:p.Pro1311SerfsTer14 | |
| XM_011518340.1:c.3930_3933del | XP_011516642.1:p.Pro1311SerfsTer14 | |
| XM_011518341.1:c.3924_3927del | XP_011516643.1:p.Pro1309SerfsTer14 | |
| XM_011518342.1:c.3492_3495del | XP_011516644.1:p.Pro1165SerfsTer14 | |
| XM_011518343.1:c.3930_3933del | XP_011516645.1:p.Pro1311SerfsTer14 | |
| XM_011518344.1:c.3930_3933del | XP_011516646.1:p.Pro1311SerfsTer14 | |
| XM_005251773.3:c.3855_3858del | XP_005251830.1:p.Pro1286SerfsTer14 | |
| XM_005251776.3:c.3675_3678del | XP_005251833.1:p.Pro1226SerfsTer14 | |
| XM_011518339.3:c.3930_3933del | XP_011516641.1:p.Pro1311SerfsTer14 | |
| XM_011518340.3:c.3930_3933del | XP_011516642.1:p.Pro1311SerfsTer14 | |
| XM_011518341.3:c.3924_3927del | XP_011516643.1:p.Pro1309SerfsTer14 | |
| XM_011518342.3:c.3492_3495del | XP_011516644.1:p.Pro1165SerfsTer14 | |
| XM_011518344.2:c.3930_3933del | XP_011516646.1:p.Pro1311SerfsTer14 | |
| XM_017014378.2:c.3930_3933del | XP_016869867.1:p.Pro1311SerfsTer14 | |
| XM_017014379.2:c.3930_3933del | XP_016869868.1:p.Pro1311SerfsTer14 | |
| XM_017014380.2:c.3930_3933del | XP_016869869.1:p.Pro1311SerfsTer14 | |
| XM_017014381.2:c.3930_3933del | XP_016869870.1:p.Pro1311SerfsTer14 | |
| XM_017014382.2:c.3792_3795del | XP_016869871.1:p.Pro1265SerfsTer14 | |
| XR_001746223.1:n.4243_4246del | ||
| NM_005502.4:c.3849_3852del MANE Select | NP_005493.2:p.Pro1284SerfsTer14 |