Linked Data
dbSNP Id:
rs34242855
gnomAD v4:
11-68908000-C-CTTTTT
MyVariant Identifiers:
chr11:g.68675468_68675469insTTTTT (hg19)
chr11:g.68908000_68908001insTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908009_68908013dup , CM000673.2:g.68908009_68908013dup | GRCh38 |
| NC_000011.9:g.68675477_68675481dup , CM000673.1:g.68675477_68675481dup | GRCh37 |
| NC_000011.8:g.68432053_68432057dup | NCBI36 |
| NG_007976.1:g.9159_9163dup , LRG_250:g.9159_9163dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.257-136_257-132dup MANE Select | ENSP00000255078.4:n.257-136_257-132dup | |
| ENST00000539224.2:c.220-136_220-132dup | ||
| ENST00000674583.1:c.220-136_220-132dup | ||
| ENST00000674597.1:c.68-136_68-132dup | ||
| ENST00000674955.1:c.257-136_257-132dup | ENSP00000502463.1:n.257-136_257-132dup | |
| ENST00000675142.1:n.220-136_220-132dup | ||
| ENST00000675469.1:c.133-136_133-132dup | ||
| ENST00000675615.1:c.257-136_257-132dup | ENSP00000502413.1:n.257-136_257-132dup | |
| ENST00000675674.1:n.220-136_220-132dup | ||
| ENST00000675873.1:c.220-136_220-132dup | ||
| ENST00000676173.1:n.301-136_301-132dup | ||
| ENST00000676228.1:c.257-136_257-132dup | ENSP00000502375.1:n.257-136_257-132dup | |
| ENST00000255078.7:c.257-136_257-132dup | ENSP00000255078.3:n.257-136_257-132dup | |
| ENST00000539224.1:c.257-136_257-132dup | ENSP00000440465.1:n.257-136_257-132dup | |
| ENST00000544541.1:c.87-136_87-132dup | ENSP00000443343.1:n.87-136_87-132dup | |
| ENST00000545146.1:c.*127-136_*127-132dup | ENSP00000456366.1:n.*127-136_*127-132dup | |
| NM_002180.2:c.257-136_257-132dup , LRG_250t1:c.257-136_257-132dup | NP_002171.2:n.257-136_257-132dup | |
| XM_005273974.2:c.-755-136_-755-132dup | XP_005274031.1:n.-755-136_-755-132dup | |
| XM_005273976.1:c.257-136_257-132dup | XP_005274033.1:n.257-136_257-132dup | |
| XR_247198.1:n.359-136_359-132dup | ||
| XR_949903.1:n.359-136_359-132dup | ||
| XM_005273976.2:c.257-136_257-132dup | XP_005274033.1:n.257-136_257-132dup | |
| XM_017017669.2:c.-657-136_-657-132dup | XP_016873158.1:n.-657-136_-657-132dup | |
| XM_017017671.2:c.257-136_257-132dup | XP_016873160.1:n.257-136_257-132dup | |
| XR_949903.3:n.355-136_355-132dup | ||
| NM_002180.3:c.257-136_257-132dup MANE Select | NP_002171.2:n.257-136_257-132dup |