Linked Data
dbSNP Id:
rs761597531
ExAC:
8:11421485 C / CGAGCT
gnomAD v2:
8-11421485-C-CGAGCT
gnomAD v4:
8-11563976-C-CGAGCT
MyVariant Identifiers:
chr8:g.11421485_11421486insGAGCT (hg19)
chr8:g.11563976_11563977insGAGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11563978_11563982dup , CM000670.2:g.11563978_11563982dup | GRCh38 |
| NC_000008.10:g.11421487_11421491dup , CM000670.1:g.11421487_11421491dup | GRCh37 |
| NC_000008.9:g.11458896_11458900dup | NCBI36 |
| NG_023543.1:g.74967_74971dup | |
| NG_023543.2:g.74967_74971dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1496_1500dup | ||
| ENST00000696154.1:c.*706_*710dup | ENSP00000512445.1:n.*706_*710dup | |
| ENST00000696155.1:n.272_276dup | ||
| ENST00000259089.9:c.1388_1392dup MANE Select | ENSP00000259089.4:p.Tyr465SerfsTer? | |
| ENST00000645242.1:c.1175_1179dup | ENSP00000494690.1:p.Tyr394SerfsTer? | |
| ENST00000259089.8:c.1388_1392dup | ENSP00000259089.4:p.Tyr465SerfsTer? | |
| ENST00000526097.1:n.1328_1332dup | ||
| ENST00000529894.1:c.1175_1179dup | ENSP00000433663.1:p.Tyr394SerfsTer? | |
| NM_001715.2:c.1388_1392dup | NP_001706.2:p.Tyr465SerfsTer? | |
| XM_011543824.1:c.1466_1470dup | XP_011542126.1:p.Tyr491SerfsTer? | |
| XM_011543825.1:c.1466_1470dup | XP_011542127.1:p.Tyr491SerfsTer? | |
| XM_011543826.1:c.1466_1470dup | XP_011542128.1:p.Tyr491SerfsTer? | |
| XM_011543827.1:c.1253_1257dup | XP_011542129.1:p.Tyr420SerfsTer? | |
| NM_001330465.1:c.1175_1179dup | NP_001317394.1:p.Tyr394SerfsTer? | |
| XM_011543825.3:c.1466_1470dup | XP_011542127.1:p.Tyr491SerfsTer? | |
| NM_001715.3:c.1388_1392dup MANE Select | NP_001706.2:p.Tyr465SerfsTer? | |
| NM_001330465.2:c.1175_1179dup | NP_001317394.1:p.Tyr394SerfsTer? |