Linked Data
dbSNP Id:
rs1446345296
gnomAD v2:
11-122929301-C-CA
gnomAD v3:
11-123058593-C-CA
gnomAD v4:
11-123058593-C-CA
MyVariant Identifiers:
chr11:g.122929301_122929302insA (hg19)
chr11:g.123058593_123058594insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058594dup , CM000673.2:g.123058594dup | GRCh38 |
| NC_000011.9:g.122929302dup , CM000673.1:g.122929302dup | GRCh37 |
| NC_000011.8:g.122434512dup | NCBI36 |
| NG_029473.1:g.8543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1522+38dup MANE Select | ENSP00000432083.1:n.1522+38dup | |
| ENST00000227378.7:c.1522+38dup | ENSP00000227378.3:n.1522+38dup | |
| ENST00000453788.6:c.1387+173dup | ENSP00000404372.2:n.1387+173dup | |
| ENST00000524552.5:c.295+38dup | ENSP00000435908.1:n.295+38dup | |
| ENST00000526110.5:c.1465+38dup | ENSP00000433584.1:n.1465+38dup | |
| ENST00000526686.1:c.178+38dup | ENSP00000435019.1:n.178+38dup | |
| ENST00000532091.1:n.1535dup | ||
| ENST00000532636.5:c.1522+38dup | ENSP00000437125.1:n.1522+38dup | |
| ENST00000533540.5:c.1084+38dup | ENSP00000437189.1:n.1084+38dup | |
| ENST00000534319.5:c.814+38dup | ENSP00000433316.1:n.814+38dup | |
| ENST00000534624.5:c.1522+38dup | ENSP00000432083.1:n.1522+38dup | |
| NM_006597.5:c.1522+38dup | NP_006588.1:n.1522+38dup | |
| NM_153201.3:c.1387+173dup | NP_694881.1:n.1387+173dup | |
| XM_011542798.1:c.1522+38dup | XP_011541100.1:n.1522+38dup | |
| NM_006597.6:c.1522+38dup MANE Select | NP_006588.1:n.1522+38dup | |
| NM_153201.4:c.1387+173dup | NP_694881.1:n.1387+173dup |