Linked Data
dbSNP Id:
rs1253478592
gnomAD v2:
5-13841776-T-TTTCAATAC
gnomAD v3:
5-13841667-T-TTTCAATAC
gnomAD v4:
5-13841667-T-TTTCAATAC
MyVariant Identifiers:
chr5:g.13841776_13841777insTTCAATAC (hg19)
chr5:g.13841667_13841668insTTCAATAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841667_13841668insTTCAATAC , CM000667.2:g.13841667_13841668insTTCAATAC | GRCh38 |
| NC_000005.9:g.13841776_13841777insTTCAATAC , CM000667.1:g.13841776_13841777insTTCAATAC | GRCh37 |
| NC_000005.8:g.13894776_13894777insTTCAATAC | NCBI36 |
| NG_013081.1:g.107813_107814insGTATTGAA | |
| NG_013081.2:g.107813_107814insGTATTGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.5484+24_5484+25insGTATTGAA MANE Select | ENSP00000265104.4:n.5484+24_5484+25insGTA... | |
| ENST00000681290.1:c.5439+24_5439+25insGTATTGAA | ENSP00000505288.1:n.5439+24_5439+25insGTA... | |
| ENST00000265104.4:c.5484+24_5484+25insGTATTGAA | ENSP00000265104.4:n.5484+24_5484+25insGTA... | |
| NM_001369.2:c.5484+24_5484+25insGTATTGAA | NP_001360.1:n.5484+24_5484+25insGTATTGAA | |
| XM_005248262.2:c.5439+24_5439+25insGTATTGAA | XP_005248319.1:n.5439+24_5439+25insGTATTG... | |
| XM_011513990.1:c.5484+24_5484+25insGTATTGAA | XP_011512292.1:n.5484+24_5484+25insGTATTG... | |
| XR_925598.1:n.5691+24_5691+25insGTATTGAA | ||
| XM_005248262.3:c.5592+24_5592+25insGTATTGAA | XP_005248319.2:n.5592+24_5592+25insGTATTG... | |
| XM_017009177.1:c.5592+24_5592+25insGTATTGAA | XP_016864666.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009178.1:c.4497+24_4497+25insGTATTGAA | XP_016864667.1:n.4497+24_4497+25insGTATTG... | |
| XM_017009179.2:c.4497+24_4497+25insGTATTGAA | XP_016864668.1:n.4497+24_4497+25insGTATTG... | |
| XM_017009180.1:c.5592+24_5592+25insGTATTGAA | XP_016864669.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009181.1:c.5592+24_5592+25insGTATTGAA | XP_016864670.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009182.1:c.5592+24_5592+25insGTATTGAA | XP_016864671.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009183.1:c.5592+24_5592+25insGTATTGAA | XP_016864672.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009184.1:c.5592+24_5592+25insGTATTGAA | XP_016864673.1:n.5592+24_5592+25insGTATTG... | |
| XM_017009185.1:c.681+24_681+25insGTATTGAA | XP_016864674.1:n.681+24_681+25insGTATTGAA... | |
| XM_017009186.1:c.234+24_234+25insGTATTGAA | XP_016864675.1:n.234+24_234+25insGTATTGAA... | |
| XM_017009187.1:c.5592+24_5592+25insGTATTGAA | XP_016864676.1:n.5592+24_5592+25insGTATTG... | |
| XM_024454388.1:c.4497+24_4497+25insGTATTGAA | XP_024310156.1:n.4497+24_4497+25insGTATTG... | |
| XM_024454389.1:c.4086+24_4086+25insGTATTGAA | XP_024310157.1:n.4086+24_4086+25insGTATTG... | |
| XR_001742034.1:n.5609+24_5609+25insGTATTGAA | ||
| XR_001742035.1:n.5609+24_5609+25insGTATTGAA | ||
| NM_001369.3:c.5484+24_5484+25insGTATTGAA MANE Select | NP_001360.1:n.5484+24_5484+25insGTATTGAA |