Linked Data
dbSNP Id:
rs1395342911
gnomAD v3:
11-2822991-A-ACAGAAAAT
gnomAD v4:
11-2822991-A-ACAGAAAAT
MyVariant Identifiers:
chr11:g.2844221_2844222insCAGAAAAT (hg19)
chr11:g.2822991_2822992insCAGAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2822997_2823004dup , CM000673.2:g.2822997_2823004dup | GRCh38 |
| NC_000011.9:g.2844227_2844234dup , CM000673.1:g.2844227_2844234dup | GRCh37 |
| NC_000011.8:g.2800803_2800810dup | NCBI36 |
| NG_008935.1:g.383007_383014dup , LRG_287:g.383007_383014dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1438-24770_1438-24763dup | ENSP00000434560.2:n.1438-24770_1438-24763... | |
| ENST00000646564.2:c.1255-16719_1255-16712dup | ENSP00000495806.2:n.1255-16719_1255-16712... | |
| ENST00000155840.12:c.1795-24770_1795-24763dup MANE Select | ENSP00000155840.2:n.1795-24770_1795-24763... | |
| ENST00000335475.6:c.1414-24770_1414-24763dup | ENSP00000334497.5:n.1414-24770_1414-24763... | |
| ENST00000526095.2:c.199-24770_199-24763dup | ENSP00000494939.1:n.199-24770_199-24763du... | |
| ENST00000646564.1:c.901-16719_901-16712dup | ENSP00000495806.1:n.901-16719_901-16712du... | |
| ENST00000155840.9:c.1795-24770_1795-24763dup | ENSP00000155840.2:n.1795-24770_1795-24763... | |
| ENST00000335475.5:c.1414-24770_1414-24763dup | ENSP00000334497.5:n.1414-24770_1414-24763... | |
| ENST00000526095.1:n.302-24770_302-24763dup | ||
| NM_000218.2:c.1795-24770_1795-24763dup , LRG_287t1:c.1795-24770_1795-24763dup | NP_000209.2:n.1795-24770_1795-24763dup | |
| NM_181798.1:c.1414-24770_1414-24763dup , LRG_287t2:c.1414-24770_1414-24763dup | NP_861463.1:n.1414-24770_1414-24763dup | |
| NM_000218.3:c.1795-24770_1795-24763dup MANE Select | NP_000209.2:n.1795-24770_1795-24763dup |