Linked Data
ClinVar Variation Id:
3039011
ClinVar RCV Id:
RCV003914361
dbSNP Id:
rs754887303
ExAC:
1:36565799 T / TAGC
gnomAD v2:
1-36565799-T-TAGC
gnomAD v3:
1-36100198-T-TAGC
gnomAD v4:
1-36100198-T-TAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36100211_36100213dup , CM000663.2:g.36100211_36100213dup | GRCh38 |
| NC_000001.10:g.36565812_36565814dup , CM000663.1:g.36565812_36565814dup | GRCh37 |
| NC_000001.9:g.36338399_36338401dup | NCBI36 |
| NG_016245.2:g.29884_29886dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.42_44dup MANE Select | ENSP00000380901.1:p.Leu15_Leu16insLeu | |
| ENST00000303143.9:c.42_44dup | ENSP00000305913.4:p.Leu15_Leu16insLeu | |
| ENST00000397799.1:c.42_44dup | ENSP00000380901.1:p.Leu15_Leu16insLeu | |
| ENST00000481785.1:c.-9_-7dup | ENSP00000436433.1:n.-9_-7dup | |
| ENST00000615990.1:c.42_44dup | ENSP00000484406.1:p.Leu15_Leu16insLeu | |
| NM_001294347.1:c.-9_-7dup | NP_001281276.1:n.-9_-7dup | |
| NM_005202.3:c.42_44dup | NP_005193.1:p.Leu15_Leu16insLeu | |
| XM_005270477.2:c.273_275dup | XP_005270534.1:p.Leu92_Leu93insLeu | |
| XM_005270477.3:c.273_275dup | XP_005270534.1:p.Leu92_Leu93insLeu | |
| NM_005202.4:c.42_44dup MANE Select | NP_005193.1:p.Leu15_Leu16insLeu | |
| NM_001294347.2:c.-9_-7dup | NP_001281276.1:n.-9_-7dup |