Linked Data
dbSNP Id:
rs1308149309
gnomAD v3:
11-121145791-A-ATCGAG
gnomAD v4:
11-121145791-A-ATCGAG
MyVariant Identifiers:
chr11:g.121016500_121016501insTCGAG (hg19)
chr11:g.121145791_121145792insTCGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145793_121145797dup , CM000673.2:g.121145793_121145797dup | GRCh38 |
| NC_000011.9:g.121016502_121016506dup , CM000673.1:g.121016502_121016506dup | GRCh37 |
| NC_000011.8:g.120521712_120521716dup | NCBI36 |
| NG_011633.1:g.48128_48132dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3782_3786dup (TECTA) MANE Select | ENSP00000376543.1:p.Val1263ArgfsTer11 | |
| ENST00000642222.1:c.3782_3786dup (TECTA) | ENSP00000493855.1:p.Val1263ArgfsTer11 | |
| ENST00000645008.1:c.1089_1093dup (TECTA) | ||
| ENST00000264037.2:c.3782_3786dup (TECTA) | ENSP00000264037.2:p.Val1263ArgfsTer11 | |
| ENST00000392793.5:c.3782_3786dup (TECTA) | ENSP00000376543.1:p.Val1263ArgfsTer11 | |
| ENST00000478058.1:n.347_351dup (TECTA) | ||
| NM_005422.2:c.3782_3786dup (TECTA) | NP_005413.2:p.Val1263ArgfsTer11 | |
| NM_001378761.1:c.4739_4743dup (TBCEL-TECTA) | NP_001365690.1:p.Val1582ArgfsTer11 | |
| NM_005422.4:c.3782_3786dup (TECTA) MANE Select | NP_005413.2:p.Val1263ArgfsTer11 |