Linked Data
ClinVar Variation Id:
2983107
ClinVar RCV Id:
RCV003847722
dbSNP Id:
rs1391162403
gnomAD v2:
1-15772203-G-GTCAACACCCGCAAGAAGCCGGTAC
gnomAD v3:
1-15445708-G-GTCAACACCCGCAAGAAGCCGGTAC
gnomAD v4:
1-15445708-G-GTCAACACCCGCAAGAAGCCGGTAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTC , CM000663.2:g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTC | GRCh38 |
| NC_000001.10:g.15772205_15772206insAACACCCGCAAGAAGCCGGTACTC , CM000663.1:g.15772205_15772206insAACACCCGCAAGAAGCCGGTACTC | GRCh37 |
| NC_000001.9:g.15644792_15644793insAACACCCGCAAGAAGCCGGTACTC | NCBI36 |
| NG_009253.1:g.12268_12269insAACACCCGCAAGAAGCCGGTACTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.753_754insAACACCCGCAAGAAGCCGGTACTC MANE Select | ENSP00000365116.4:p.Val251_Tyr252insAsnThrArgLysLysProValLeu | |
| ENST00000375943.6:c.*207_*208insAACACCCGCAAGAAGCCGGTACTC | ENSP00000365110.2:n.*207_*208insAACACCCGCAAGAAGCCGGTACTC | |
| ENST00000375949.4:c.753_754insAACACCCGCAAGAAGCCGGTACTC | ENSP00000365116.4:p.Val251_Tyr252insAsnThrArgLysLysProValLeu | |
| ENST00000483406.1:n.517_518insAACACCCGCAAGAAGCCGGTACTC | ||
| NM_007272.2:c.753_754insAACACCCGCAAGAAGCCGGTACTC | NP_009203.2:p.Val251_Tyr252insAsnThrArgLysLysProValLeu | |
| XM_011540550.1:c.607_608insAACACCCGCAAGAAGCCGGTACTC | XP_011538852.1:p.Ser202_Leu203insGlnHisProGlnGluAlaGlyThr | |
| NM_007272.3:c.753_754insAACACCCGCAAGAAGCCGGTACTC MANE Select | NP_009203.2:p.Val251_Tyr252insAsnThrArgLysLysProValLeu |