Linked Data
ClinVar Variation Id:
518430
ClinVar RCV Id:
RCV000604665
dbSNP Id:
rs1554123960
gnomAD v4:
6-42938655-A-AGGCAGCAGGCGGCAGGAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42938656_42938674dup , CM000668.2:g.42938656_42938674dup | GRCh38 |
| NC_000006.11:g.42906394_42906412dup , CM000668.1:g.42906394_42906412dup | GRCh37 |
| NC_000006.10:g.43014372_43014390dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372836.5:c.702_720dup MANE Select | ENSP00000361926.4:p.Ser241GlyfsTer7 | |
| ENST00000372836.4:c.702_720dup | ENSP00000361926.4:p.Ser241GlyfsTer7 | |
| NM_006586.3:c.702_720dup | NP_006577.2:p.Ser241GlyfsTer7 | |
| XM_005248815.2:c.801_819dup | XP_005248872.1:p.Ser274GlyfsTer7 | |
| XM_005248817.1:c.435_453dup | XP_005248874.1:p.Ser152GlyfsTer7 | |
| XM_005248818.1:c.327_345dup | XP_005248875.1:p.Ser116GlyfsTer7 | |
| XM_006714967.2:c.534_552dup | XP_006715030.1:p.Ser185GlyfsTer7 | |
| XM_006714968.1:c.327_345dup | XP_006715031.1:p.Ser116GlyfsTer7 | |
| XM_011514252.1:c.723_741dup | XP_011512554.1:p.Ser248GlyfsTer7 | |
| NM_001318842.1:c.801_819dup | NP_001305771.1:p.Ser274GlyfsTer7 | |
| NM_001318845.1:c.435_453dup | NP_001305774.1:p.Ser152GlyfsTer7 | |
| NM_001318856.1:c.8+8935_8+8953dup | NP_001305785.1:n.8+8935_8+8953dup | |
| NM_001318857.1:c.151+8935_151+8953dup | NP_001305786.1:n.151+8935_151+8953dup | |
| NM_001318858.1:c.151+8935_151+8953dup | NP_001305787.1:n.151+8935_151+8953dup | |
| NM_006586.4:c.702_720dup | NP_006577.2:p.Ser241GlyfsTer7 | |
| NR_134880.1:n.1205_1223dup | ||
| NR_134881.1:n.2398_2416dup | ||
| NR_134882.1:n.1081_1099dup | ||
| NR_134888.1:n.896_914dup | ||
| NR_134890.1:n.689+2986_689+3004dup | ||
| NR_134891.1:n.592+8935_592+8953dup | ||
| NR_134892.1:n.592+8935_592+8953dup | ||
| NM_001318856.2:c.8+8935_8+8953dup | NP_001305785.1:n.8+8935_8+8953dup | |
| NM_001318857.2:c.151+8935_151+8953dup | NP_001305786.1:n.151+8935_151+8953dup | |
| NM_001318858.2:c.151+8935_151+8953dup | NP_001305787.1:n.151+8935_151+8953dup | |
| NM_006586.5:c.702_720dup MANE Select | NP_006577.2:p.Ser241GlyfsTer7 | |
| NR_134890.2:n.339+2986_339+3004dup | ||
| NR_134891.2:n.242+8935_242+8953dup | ||
| NR_134892.2:n.242+8935_242+8953dup |