Linked Data
ClinVar Variation Id:
373731
ClinVar RCV Id:
RCV000413631
dbSNP Id:
rs1057518576
MyVariant Identifiers:
chr8:g.61757935_61757948delinsT (hg19)
chr8:g.60845376_60845389delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60845376_60845389delinsT , CM000670.2:g.60845376_60845389delinsT | GRCh38 |
| NC_000008.10:g.61757935_61757948delinsT , CM000670.1:g.61757935_61757948delinsT | GRCh37 |
| NC_000008.9:g.61920489_61920502delinsT | NCBI36 |
| NG_007009.1:g.171597_171610delinsT , LRG_176:g.171597_171610delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695853.1:c.5177_5190delinsT | ENSP00000512218.1:p.Ser1726IlefsTer2 | |
| ENST00000423902.7:c.5177_5190delinsT MANE Select | ENSP00000392028.1:p.Ser1726IlefsTer2 | |
| ENST00000423902.6:c.5177_5190delinsT | ENSP00000392028.1:p.Ser1726IlefsTer2 | |
| ENST00000524602.5:c.1717-16853_1717-16840delinsT | ENSP00000437061.1:n.1717-16853_1717-16840... | |
| NM_001316690.1:c.1717-16853_1717-16840delinsT | NP_001303619.1:n.1717-16853_1717-16840del... | |
| NM_017780.3:c.5177_5190delinsT | NP_060250.2:p.Ser1726IlefsTer2 | |
| XM_011517553.1:c.5177_5190delinsT | XP_011515855.1:p.Ser1726IlefsTer2 | |
| XM_011517554.1:c.5177_5190delinsT | XP_011515856.1:p.Ser1726IlefsTer2 | |
| XM_011517555.1:c.5177_5190delinsT | XP_011515857.1:p.Ser1726IlefsTer2 | |
| XM_011517556.1:c.5177_5190delinsT | XP_011515858.1:p.Ser1726IlefsTer2 | |
| XM_011517557.1:c.3164_3177delinsT | XP_011515859.1:p.Ser1055IlefsTer2 | |
| XM_011517558.1:c.2714_2727delinsT | XP_011515860.1:p.Ser905IlefsTer2 | |
| XM_011517559.1:c.1922_1935delinsT | XP_011515861.1:p.Ser641IlefsTer2 | |
| XM_011517553.2:c.5177_5190delinsT | XP_011515855.1:p.Ser1726IlefsTer2 | |
| XM_011517554.3:c.5177_5190delinsT | XP_011515856.1:p.Ser1726IlefsTer2 | |
| XM_011517555.2:c.5177_5190delinsT | XP_011515857.1:p.Ser1726IlefsTer2 | |
| XM_017013612.1:c.5177_5190delinsT | XP_016869101.1:p.Ser1726IlefsTer2 | |
| XM_017013613.1:c.5177_5190delinsT | XP_016869102.1:p.Ser1726IlefsTer2 | |
| NM_017780.4:c.5177_5190delinsT MANE Select | NP_060250.2:p.Ser1726IlefsTer2 |