Linked Data
dbSNP Id:
rs72205420
MyVariant Identifiers:
chr16:g.82817432_82817433insAAT (hg19)
chr16:g.82783827_82783828insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82783829_82783831dup , CM000678.2:g.82783829_82783831dup | GRCh38 |
| NC_000016.9:g.82817434_82817436dup , CM000678.1:g.82817434_82817436dup | GRCh37 |
| NC_000016.8:g.81374935_81374937dup | NCBI36 |
| NG_052819.1:g.162036_162038dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.46-74533_46-74531dup MANE Select | ENSP00000479395.1:n.46-74533_46-74531dup | |
| ENST00000268613.14:c.187-74533_187-74531dup | ENSP00000268613.10:n.187-74533_187-74531dup | |
| ENST00000428848.7:c.46-74533_46-74531dup | ENSP00000394557.3:n.46-74533_46-74531dup | |
| ENST00000431540.7:c.46-74533_46-74531dup | ENSP00000408632.3:n.46-74533_46-74531dup | |
| ENST00000539548.6:c.46-74533_46-74531dup | ENSP00000442225.2:n.46-74533_46-74531dup | |
| ENST00000562601.5:c.*55-74533_*55-74531dup | ENSP00000455781.1:n.*55-74533_*55-74531dup | |
| ENST00000565636.5:c.46-74533_46-74531dup | ENSP00000456491.1:n.46-74533_46-74531dup | |
| ENST00000566333.1:n.168-74533_168-74531dup | ||
| ENST00000567109.5:c.46-74533_46-74531dup | ENSP00000479395.1:n.46-74533_46-74531dup | |
| ENST00000567445.1:c.46-74533_46-74531dup | ENSP00000456297.1:n.46-74533_46-74531dup | |
| ENST00000568770.5:c.*45+64354_*45+64356dup | ENSP00000457149.1:n.*45+64354_*45+64356dup | |
| ENST00000569144.5:c.46-74533_46-74531dup | ENSP00000457914.1:n.46-74533_46-74531dup | |
| NM_001220488.1:c.187-74533_187-74531dup | NP_001207417.1:n.187-74533_187-74531dup | |
| NM_001220489.1:c.46-74533_46-74531dup | NP_001207418.1:n.46-74533_46-74531dup | |
| NM_001220490.1:c.-508-74533_-508-74531dup | NP_001207419.1:n.-508-74533_-508-74531dup | |
| NM_001220491.1:c.46-74533_46-74531dup | NP_001207420.1:n.46-74533_46-74531dup | |
| NM_001220492.1:c.46-74533_46-74531dup | NP_001207421.1:n.46-74533_46-74531dup | |
| NM_001257.4:c.46-74533_46-74531dup | NP_001248.1:n.46-74533_46-74531dup | |
| NR_110938.1:n.171+10340_171+10342dup | ||
| XM_011522805.1:c.187-74533_187-74531dup | XP_011521107.1:n.187-74533_187-74531dup | |
| XM_017022848.2:c.187-74533_187-74531dup | XP_016878337.1:n.187-74533_187-74531dup | |
| XM_017022849.2:c.187-74533_187-74531dup | XP_016878338.1:n.187-74533_187-74531dup | |
| NM_001257.5:c.46-74533_46-74531dup MANE Select | NP_001248.1:n.46-74533_46-74531dup | |
| NM_001220488.2:c.187-74533_187-74531dup | NP_001207417.1:n.187-74533_187-74531dup | |
| NM_001220489.2:c.46-74533_46-74531dup | NP_001207418.1:n.46-74533_46-74531dup | |
| NM_001220490.2:c.-508-74533_-508-74531dup | NP_001207419.1:n.-508-74533_-508-74531dup | |
| NM_001220491.2:c.46-74533_46-74531dup | NP_001207420.1:n.46-74533_46-74531dup | |
| NM_001220492.2:c.46-74533_46-74531dup | NP_001207421.1:n.46-74533_46-74531dup |