Linked Data
ClinVar Variation Id:
468238
ClinVar RCV Id:
RCV000547430
dbSNP Id:
rs1209914140
gnomAD v2:
1-17349182-T-TCCTCTGTGAAGCG
gnomAD v4:
1-17022687-T-TCCTCTGTGAAGCG
MyVariant Identifiers:
chr1:g.17349182_17349183insCCTCTGTGAAGCG (hg19)
chr1:g.17022687_17022688insCCTCTGTGAAGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022698_17022699insCGCCTCTGTGAAG , CM000663.2:g.17022698_17022699insCGCCTCTGTGAAG | GRCh38 |
| NC_000001.10:g.17349193_17349194insCGCCTCTGTGAAG , CM000663.1:g.17349193_17349194insCGCCTCTGTGAAG | GRCh37 |
| NC_000001.9:g.17221780_17221781insCGCCTCTGTGAAG | NCBI36 |
| NG_012340.1:g.36483_36484insCGCTTCACAGAGG , LRG_316:g.36483_36484insCGCTTCACAGAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.514_515insCGCTTCACAGAGG | ENSP00000481376.2:p.Glu172AlafsTer31 | |
| ENST00000491274.6:c.643_644insCGCTTCACAGAGG | ENSP00000480482.2:p.Glu215AlafsTer31 | |
| ENST00000375499.8:c.685_686insCGCTTCACAGAGG MANE Select | ENSP00000364649.3:p.Glu229AlafsTer31 | |
| ENST00000375499.7:c.685_686insCGCTTCACAGAGG | ENSP00000364649.3:p.Glu229AlafsTer31 | |
| ENST00000475049.5:n.110_111insCGCTTCACAGAGG | ||
| ENST00000485092.5:n.349_350insCGCTTCACAGAGG | ||
| ENST00000485515.5:n.619_620insCGCTTCACAGAGG | ||
| NM_003000.2:c.685_686insCGCTTCACAGAGG , LRG_316t1:c.685_686insCGCTTCACAGAGG | NP_002991.2:p.Glu229AlafsTer31 | |
| NM_003000.3:c.685_686insCGCTTCACAGAGG MANE Select | NP_002991.2:p.Glu229AlafsTer31 |