Linked Data
ClinVar Variation Id:
555065
ClinVar RCV Id:
RCV000670809
dbSNP Id:
rs1555190745
MyVariant Identifiers:
chr11:g.119026038_119026039insGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026038_119026039insGC , CM000673.2:g.119026038_119026039insGC | GRCh38 |
| NC_000011.9:g.118896748_118896749insGC , CM000673.1:g.118896748_118896749insGC | GRCh37 |
| NC_000011.8:g.118401958_118401959insGC | NCBI36 |
| NG_013331.1:g.9867_9868insGC , LRG_187:g.9867_9868insGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1056_1057insGC | ||
| ENST00000697845.1:n.1836_1837insGC | ||
| ENST00000697846.1:n.1056_1057insGC | ||
| ENST00000697847.1:n.1202-282_1202-281insGC | ||
| ENST00000697848.1:n.1142_1143insGC | ||
| ENST00000697849.1:n.2951_2952insGC | ||
| ENST00000697850.1:n.1142_1143insGC | ||
| ENST00000697851.1:n.2750_2751insGC | ||
| ENST00000638186.1:n.1216_1217insGC | ||
| ENST00000638360.1:n.1048_1049insGC | ||
| ENST00000638925.1:n.1181_1182insGC | ||
| ENST00000650539.1:n.1318_1319insGC | ||
| ENST00000330775.9:c.912_913insGC | ENSP00000476242.2:p.Leu305AlafsTer4 | |
| ENST00000357590.9:c.912_913insGC | ENSP00000476176.2:p.Leu305AlafsTer4 | |
| ENST00000524428.5:n.1148_1149insGC | ||
| ENST00000525039.5:n.1336_1337insGC | ||
| ENST00000525102.5:n.1670_1671insGC | ||
| ENST00000525372.5:n.1010_1011insGC | ||
| ENST00000526275.5:n.1694_1695insGC | ||
| ENST00000527992.5:n.1140_1141insGC | ||
| ENST00000529510.5:n.600_601insGC | ||
| ENST00000530407.5:n.1062_1063insGC | ||
| ENST00000532085.1:n.4293_4294insGC | ||
| ENST00000538950.5:c.693_694insGC | ENSP00000475991.2:p.Leu232AlafsTer4 | |
| ENST00000545985.5:c.912_913insGC | ENSP00000475241.2:p.Leu305AlafsTer4 | |
| NM_001164277.1:c.912_913insGC , LRG_187t1:c.912_913insGC | NP_001157749.1:p.Leu305AlafsTer4 | |
| NM_001164278.1:c.912_913insGC | NP_001157750.1:p.Leu305AlafsTer4 | |
| NM_001164279.1:c.693_694insGC | NP_001157751.1:p.Leu232AlafsTer4 | |
| NM_001164280.1:c.912_913insGC | NP_001157752.1:p.Leu305AlafsTer4 | |
| NM_001467.5:c.912_913insGC | NP_001458.1:p.Leu305AlafsTer4 | |
| NM_001164278.2:c.912_913insGC | NP_001157750.1:p.Leu305AlafsTer4 | |
| NM_001164279.2:c.693_694insGC | NP_001157751.1:p.Leu232AlafsTer4 | |
| NM_001164280.2:c.912_913insGC | NP_001157752.1:p.Leu305AlafsTer4 | |
| NM_001467.6:c.912_913insGC | NP_001458.1:p.Leu305AlafsTer4 | |
| NM_001164277.2:c.912_913insGC MANE Select | NP_001157749.1:p.Leu305AlafsTer4 |