Linked Data
ClinVar Variation Id:
95776
dbSNP Id:
rs377139749
ExAC:
8:61693942 G / GAAAGCA
gnomAD v2:
8-61693942-G-GAAAGCA
gnomAD v3:
8-60781383-G-GAAAGCA
gnomAD v4:
8-60781383-G-GAAAGCA
MyVariant Identifiers:
chr8:g.61693946_61693951dup (hg19)
chr8:g.61693946_61693951dupGCAAAA (hg19)
chr8:g.61693951_61693952insGCAAAA (hg19)
chr8:g.61693942_61693943insAAAGCA (hg19)
chr8:g.60781387_60781392dupGCAAAA (hg38)
chr8:g.60781383_60781384insAAAGCA (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60781387_60781392dup , CM000670.2:g.60781387_60781392dup | GRCh38 |
| NC_000008.10:g.61693946_61693951dup , CM000670.1:g.61693946_61693951dup | GRCh37 |
| NC_000008.9:g.61856500_61856505dup | NCBI36 |
| NG_007009.1:g.107608_107613dup , LRG_176:g.107608_107613dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695848.1:n.2566_2571dup | ||
| ENST00000695849.1:n.2566_2571dup | ||
| ENST00000695853.1:c.2053_2058dup | ENSP00000512218.1:p.Lys686_Thr687insAlaLys | |
| ENST00000423902.7:c.2053_2058dup MANE Select | ENSP00000392028.1:p.Lys686_Thr687insAlaLys | |
| ENST00000423902.6:c.2053_2058dup | ENSP00000392028.1:p.Lys686_Thr687insAlaLys | |
| ENST00000524602.5:c.1716+337_1716+342dup | ENSP00000437061.1:n.1716+337_1716+342dup | |
| ENST00000525508.1:c.2053_2058dup | ENSP00000436027.1:p.Lys686_Thr687insAlaLys | |
| ENST00000527900.1:c.117+337_117+342dup | ENSP00000433336.1:n.117+337_117+342dup | |
| NM_001316690.1:c.1716+337_1716+342dup | NP_001303619.1:n.1716+337_1716+342dup | |
| NM_017780.3:c.2053_2058dup | NP_060250.2:p.Lys686_Thr687insAlaLys | |
| XM_011517553.1:c.2053_2058dup | XP_011515855.1:p.Lys686_Thr687insAlaLys | |
| XM_011517554.1:c.2053_2058dup | XP_011515856.1:p.Lys686_Thr687insAlaLys | |
| XM_011517555.1:c.2053_2058dup | XP_011515857.1:p.Lys686_Thr687insAlaLys | |
| XM_011517556.1:c.2053_2058dup | XP_011515858.1:p.Lys686_Thr687insAlaLys | |
| XM_011517560.1:c.2053_2058dup | XP_011515862.1:p.Lys686_Thr687insAlaLys | |
| XM_011517553.2:c.2053_2058dup | XP_011515855.1:p.Lys686_Thr687insAlaLys | |
| XM_011517554.3:c.2053_2058dup | XP_011515856.1:p.Lys686_Thr687insAlaLys | |
| XM_011517555.2:c.2053_2058dup | XP_011515857.1:p.Lys686_Thr687insAlaLys | |
| XM_011517560.2:c.2053_2058dup | XP_011515862.1:p.Lys686_Thr687insAlaLys | |
| XM_017013612.1:c.2053_2058dup | XP_016869101.1:p.Lys686_Thr687insAlaLys | |
| XM_017013613.1:c.2053_2058dup | XP_016869102.1:p.Lys686_Thr687insAlaLys | |
| NM_017780.4:c.2053_2058dup MANE Select | NP_060250.2:p.Lys686_Thr687insAlaLys |