Linked Data
ClinVar Variation Id:
217449
dbSNP Id:
rs746581714
ExAC:
11:68685268 TAAGAA / T
gnomAD v2:
11-68685268-TAAGAA-T
gnomAD v3:
11-68917800-TAAGAA-T
gnomAD v4:
11-68917800-TAAGAA-T
MyVariant Identifiers:
chr11:g.68685274_68685278del (hg19)
chr11:g.68685269_68685273del (hg19)
chr11:g.68917806_68917810del (hg38)
chr11:g.68917801_68917805del (hg38)
PubMed:
PMID:27450922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917806_68917810del , CM000673.2:g.68917806_68917810del | GRCh38 |
| NC_000011.9:g.68685274_68685278del , CM000673.1:g.68685274_68685278del | GRCh37 |
| NC_000011.8:g.68441850_68441854del | NCBI36 |
| NG_007976.1:g.18956_18960del , LRG_250:g.18956_18960del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.983_987del MANE Select | ENSP00000255078.4:p.Lys328ThrfsTer? | |
| ENST00000674745.1:c.71_75del | ENSP00000502738.1:p.Lys24ThrfsTer? | |
| ENST00000674775.1:n.71_75del | ||
| ENST00000674955.1:c.983_987del | ENSP00000502463.1:p.Lys328ThrfsTer? | |
| ENST00000675118.1:c.471_475del | ||
| ENST00000675119.1:c.410_414del | ENSP00000501861.1:n.410_414del | |
| ENST00000675305.1:c.303_307del | ENSP00000502365.1:n.303_307del | |
| ENST00000675464.1:c.266_270del | ENSP00000502650.1:p.Lys89ThrfsTer? | |
| ENST00000675493.1:n.71_75del | ||
| ENST00000675615.1:c.983_987del | ENSP00000502413.1:p.Lys328ThrfsTer? | |
| ENST00000675648.1:n.358_362del | ||
| ENST00000675683.1:c.370_374del | ||
| ENST00000675684.1:c.71_75del | ENSP00000502192.1:p.Lys24ThrfsTer? | |
| ENST00000676173.1:n.1027_1031del | ||
| ENST00000676228.1:c.*306_*310del | ENSP00000502375.1:n.*306_*310del | |
| ENST00000255078.7:c.983_987del | ENSP00000255078.3:p.Lys328ThrfsTer? | |
| NM_002180.2:c.983_987del , LRG_250t1:c.983_987del | NP_002171.2:p.Lys328ThrfsTer? | |
| XM_005273974.2:c.-29_-25del | XP_005274031.1:n.-29_-25del | |
| XM_005273976.1:c.983_987del | XP_005274033.1:p.Lys328ThrfsTer? | |
| XR_247198.1:n.1085_1089del | ||
| XR_949903.1:n.1085_1089del | ||
| XM_005273976.2:c.983_987del | XP_005274033.1:p.Lys328ThrfsTer? | |
| XM_017017669.2:c.-29_-25del | XP_016873158.1:n.-29_-25del | |
| XM_017017670.2:c.-29_-25del | XP_016873159.1:n.-29_-25del | |
| XM_017017671.2:c.983_987del | XP_016873160.1:p.Lys328ThrfsTer? | |
| XR_949903.3:n.1081_1085del | ||
| NM_002180.3:c.983_987del MANE Select | NP_002171.2:p.Lys328ThrfsTer? |