Linked Data
ClinVar Variation Id:
252924
ClinVar RCV Id:
RCV000239388
dbSNP Id:
rs879255504
PubMed:
PMID:24327139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96193158del , CM000669.2:g.96193158del | GRCh38 |
| NC_000007.13:g.95822470del , CM000669.1:g.95822470del | GRCh37 |
| NC_000007.12:g.95660406del | NCBI36 |
| NG_012247.1:g.133991del | |
| NG_012247.2:g.133991del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.495del MANE Select | ENSP00000265631.6:p.Ala166ProfsTer? | |
| ENST00000265631.9:c.495del | ENSP00000265631.5:p.Ala166ProfsTer? | |
| ENST00000416240.6:c.495del | ENSP00000400101.2:p.Ala166ProfsTer? | |
| ENST00000472162.2:c.*157del | ENSP00000473505.1:n.*157del | |
| NM_001160210.1:c.495del | NP_001153682.1:p.Ala166ProfsTer? | |
| NM_014251.2:c.495del | NP_055066.1:p.Ala166ProfsTer? | |
| NR_027662.1:n.570del | ||
| XM_006715831.2:c.528del | XP_006715894.1:p.Ala177ProfsTer? | |
| XM_011515727.1:c.528del | XP_011514029.1:p.Ala177ProfsTer? | |
| XM_006715831.4:c.528del | XP_006715894.1:p.Ala177ProfsTer? | |
| XM_011515727.3:c.528del | XP_011514029.1:p.Ala177ProfsTer? | |
| XM_017011663.1:c.486del | XP_016867152.1:p.Ala163ProfsTer? | |
| XM_017011664.2:c.-264del | XP_016867153.1:n.-264del | |
| XM_017011665.1:c.-264del | XP_016867154.1:n.-264del | |
| XR_001744525.2:n.666del | ||
| XR_002956405.1:n.808del | ||
| NM_014251.3:c.495del MANE Select | NP_055066.1:p.Ala166ProfsTer? | |
| NR_027662.2:n.521del | ||
| NM_001160210.2:c.495del | NP_001153682.1:p.Ala166ProfsTer? |