Linked Data
dbSNP Id:
rs1277836314
gnomAD v2:
11-118900079-T-TGGTA
MyVariant Identifiers:
chr11:g.118900079_118900080insGGTA (hg19)
chr11:g.119029369_119029370insGGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029371_119029374dup , CM000673.2:g.119029371_119029374dup | GRCh38 |
| NC_000011.9:g.118900081_118900084dup , CM000673.1:g.118900081_118900084dup | GRCh37 |
| NC_000011.8:g.118405291_118405294dup | NCBI36 |
| NG_013331.1:g.6534_6537dup , LRG_187:g.6534_6537dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.226_229dup | ||
| ENST00000697846.1:n.226_229dup | ||
| ENST00000697847.1:n.226_229dup | ||
| ENST00000697848.1:n.226_229dup | ||
| ENST00000697849.1:n.470_473dup | ||
| ENST00000697850.1:n.226_229dup | ||
| ENST00000697851.1:n.470_473dup | ||
| ENST00000638186.1:n.300_303dup | ||
| ENST00000638360.1:n.234_237dup | ||
| ENST00000638925.1:n.233_236dup | ||
| ENST00000650539.1:n.402_405dup | ||
| ENST00000330775.9:c.-4_-1dup | ENSP00000476242.2:p.Met1TyrfsTer? | |
| ENST00000357590.9:c.-4_-1dup | ENSP00000476176.2:p.Met1TyrfsTer? | |
| ENST00000525039.5:n.420_423dup | ||
| ENST00000525102.5:n.754_757dup | ||
| ENST00000525787.1:n.292_295dup | ||
| ENST00000526626.6:n.192_195dup | ||
| ENST00000527992.5:n.224_227dup | ||
| ENST00000529510.5:n.15_18dup | ||
| ENST00000530407.5:n.197+19_197+22dup | ||
| ENST00000532085.1:n.1491_1494dup | ||
| ENST00000532888.6:n.192_195dup | ||
| ENST00000534384.1:n.217_220dup | ||
| ENST00000538950.5:c.-172+19_-172+22dup | ENSP00000475991.2:n.-172+19_-172+22dup | |
| ENST00000545985.5:c.-4_-1dup | ENSP00000475241.2:p.Met1TyrfsTer? | |
| NM_001164277.1:c.-4_-1dup , LRG_187t1:c.-4_-1dup | NP_001157749.1:p.Met1TyrfsTer? | |
| NM_001164278.1:c.-4_-1dup | NP_001157750.1:p.Met1TyrfsTer? | |
| NM_001164279.1:c.-172+19_-172+22dup | NP_001157751.1:n.-172+19_-172+22dup | |
| NM_001164280.1:c.-4_-1dup | NP_001157752.1:p.Met1TyrfsTer? | |
| NM_001467.5:c.-4_-1dup | NP_001458.1:p.Met1TyrfsTer? | |
| NM_001164278.2:c.-4_-1dup | NP_001157750.1:p.Met1TyrfsTer? | |
| NM_001164279.2:c.-172+19_-172+22dup | NP_001157751.1:n.-172+19_-172+22dup | |
| NM_001164280.2:c.-4_-1dup | NP_001157752.1:p.Met1TyrfsTer? | |
| NM_001467.6:c.-4_-1dup | NP_001458.1:p.Met1TyrfsTer? | |
| NM_001164277.2:c.-4_-1dup MANE Select | NP_001157749.1:p.Met1TyrfsTer? |