Linked Data
dbSNP Id:
rs1486349066
gnomAD v3:
11-123058601-C-CTG
gnomAD v4:
11-123058601-C-CTG
MyVariant Identifiers:
chr11:g.122929309_122929310insTG (hg19)
chr11:g.123058601_123058602insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058603_123058604dup , CM000673.2:g.123058603_123058604dup | GRCh38 |
| NC_000011.9:g.122929311_122929312dup , CM000673.1:g.122929311_122929312dup | GRCh37 |
| NC_000011.8:g.122434521_122434522dup | NCBI36 |
| NG_029473.1:g.8534_8535dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1522+29_1522+30dup MANE Select | ENSP00000432083.1:n.1522+29_1522+30dup | |
| ENST00000227378.7:c.1522+29_1522+30dup | ENSP00000227378.3:n.1522+29_1522+30dup | |
| ENST00000453788.6:c.1387+164_1387+165dup | ENSP00000404372.2:n.1387+164_1387+165dup | |
| ENST00000524552.5:c.295+29_295+30dup | ENSP00000435908.1:n.295+29_295+30dup | |
| ENST00000526110.5:c.1465+29_1465+30dup | ENSP00000433584.1:n.1465+29_1465+30dup | |
| ENST00000526686.1:c.178+29_178+30dup | ENSP00000435019.1:n.178+29_178+30dup | |
| ENST00000532091.1:n.1526_1527dup | ||
| ENST00000532636.5:c.1522+29_1522+30dup | ENSP00000437125.1:n.1522+29_1522+30dup | |
| ENST00000533540.5:c.1084+29_1084+30dup | ENSP00000437189.1:n.1084+29_1084+30dup | |
| ENST00000534319.5:c.814+29_814+30dup | ENSP00000433316.1:n.814+29_814+30dup | |
| ENST00000534624.5:c.1522+29_1522+30dup | ENSP00000432083.1:n.1522+29_1522+30dup | |
| NM_006597.5:c.1522+29_1522+30dup | NP_006588.1:n.1522+29_1522+30dup | |
| NM_153201.3:c.1387+164_1387+165dup | NP_694881.1:n.1387+164_1387+165dup | |
| XM_011542798.1:c.1522+29_1522+30dup | XP_011541100.1:n.1522+29_1522+30dup | |
| NM_006597.6:c.1522+29_1522+30dup MANE Select | NP_006588.1:n.1522+29_1522+30dup | |
| NM_153201.4:c.1387+164_1387+165dup | NP_694881.1:n.1387+164_1387+165dup |