Linked Data
dbSNP Id:
rs1287059359
gnomAD v3:
11-22272848-C-CATAA
gnomAD v4:
11-22272848-C-CATAA
MyVariant Identifiers:
chr11:g.22294394_22294395insATAA (hg19)
chr11:g.22272848_22272849insATAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272853_22272856dup , CM000673.2:g.22272853_22272856dup | GRCh38 |
| NC_000011.9:g.22294399_22294402dup , CM000673.1:g.22294399_22294402dup | GRCh37 |
| NC_000011.8:g.22250975_22250978dup | NCBI36 |
| NG_015844.1:g.84678_84681dup , LRG_868:g.84678_84681dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.116_119dup | ||
| ENST00000682266.1:c.1649_1652dup | ENSP00000507766.1:p.Asn551LysfsTer2 | |
| ENST00000682341.1:c.2057_2060dup | ENSP00000508251.1:p.Asn687LysfsTer2 | |
| ENST00000683197.1:c.2057_2060dup | ENSP00000507641.1:p.Asn687LysfsTer2 | |
| ENST00000683411.1:c.1649_1652dup | ENSP00000508397.1:p.Asn551LysfsTer2 | |
| ENST00000683437.1:c.1649_1652dup | ENSP00000508408.1:p.Asn551LysfsTer2 | |
| ENST00000683613.1:n.3093_3096dup | ||
| ENST00000684663.1:c.2054_2057dup | ENSP00000508009.1:p.Asn686LysfsTer2 | |
| ENST00000324559.9:c.2099_2102dup MANE Select | ENSP00000315371.9:p.Asn701LysfsTer2 | |
| ENST00000648804.1:n.2434_2437dup | ||
| ENST00000324559.8:c.2099_2102dup | ENSP00000315371.8:p.Asn701LysfsTer2 | |
| ENST00000532043.1:n.116_119dup | ||
| NM_001142649.1:c.2096_2099dup | NP_001136121.1:p.Asn700LysfsTer2 | |
| NM_213599.2:c.2099_2102dup , LRG_868t1:c.2099_2102dup | NP_998764.1:p.Asn701LysfsTer2 | |
| XM_005252820.2:c.2057_2060dup | XP_005252877.2:p.Asn687LysfsTer2 | |
| XM_005252821.2:c.2054_2057dup | XP_005252878.2:p.Asn686LysfsTer2 | |
| XM_005252822.3:c.2021_2024dup | XP_005252879.1:p.Asn675LysfsTer2 | |
| XM_005252823.3:c.2018_2021dup | XP_005252880.1:p.Asn674LysfsTer2 | |
| XM_011519949.1:c.2006_2009dup | XP_011518251.1:p.Asn670LysfsTer2 | |
| XM_005252820.3:c.2057_2060dup | XP_005252877.2:p.Asn687LysfsTer2 | |
| XM_005252821.3:c.2054_2057dup | XP_005252878.2:p.Asn686LysfsTer2 | |
| XM_005252822.4:c.2021_2024dup | XP_005252879.1:p.Asn675LysfsTer2 | |
| XM_011519949.2:c.2006_2009dup | XP_011518251.1:p.Asn670LysfsTer2 | |
| NM_001142649.2:c.2096_2099dup | NP_001136121.1:p.Asn700LysfsTer2 | |
| NM_213599.3:c.2099_2102dup MANE Select | NP_998764.1:p.Asn701LysfsTer2 |