Linked Data
dbSNP Id:
rs2102327917
gnomAD v3:
1-204190466-T-TGTCCCGCACCTGCGCCCTCA
gnomAD v4:
1-204190466-T-TGTCCCGCACCTGCGCCCTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190467_204190468insTCCCGCACCTGCGCCCTCAG , CM000663.2:g.204190467_204190468insTCCCGCACCTGCGCCCTCAG | GRCh38 |
| NC_000001.10:g.204159595_204159596insTCCCGCACCTGCGCCCTCAG , CM000663.1:g.204159595_204159596insTCCCGCACCTGCGCCCTCAG | GRCh37 |
| NC_000001.9:g.202426218_202426219insTCCCGCACCTGCGCCCTCAG | NCBI36 |
| NG_032151.1:g.11025_11026insTGAGGGCGCAGGTGCGGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*17_*18insTGAGGGCGCAGGTGCGGGAC MANE Select | ENSP00000356162.4:n.*17_*18insTGAGGGCGCAGGTGCGGGAC | |
| ENST00000367194.4:c.*17_*18insTGAGGGCGCAGGTGCGGGAC | ENSP00000356162.4:n.*17_*18insTGAGGGCGCAGGTGCGGGAC | |
| ENST00000625357.1:c.430_431insTGAGGGCGCAGGTGCGGGAC | ENSP00000485957.1:p.Gln144LeufsTer? | |
| NM_002256.3:c.*17_*18insTGAGGGCGCAGGTGCGGGAC | NP_002247.3:n.*17_*18insTGAGGGCGCAGGTGCGGGAC | |
| XM_011509525.1:c.*17_*18insTGAGGGCGCAGGTGCGGGAC | XP_011507827.1:n.*17_*18insTGAGGGCGCAGGTGCGGGAC | |
| NM_002256.4:c.*17_*18insTGAGGGCGCAGGTGCGGGAC MANE Select | NP_002247.3:n.*17_*18insTGAGGGCGCAGGTGCGGGAC |