Linked Data
ClinVar Variation Id:
370735
ClinVar RCV Id:
RCV000412398
dbSNP Id:
rs763445509
ExAC:
9:111662593 T / TC
gnomAD v2:
9-111662593-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108900314dup , CM000671.2:g.108900314dup | GRCh38 |
| NC_000009.11:g.111662594dup , CM000671.1:g.111662594dup | GRCh37 |
| NC_000009.10:g.110702415dup | NCBI36 |
| NG_008788.1:g.39015dup , LRG_251:g.39015dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.2076dup MANE Select | ENSP00000363779.5:p.Arg693GlufsTer? | |
| ENST00000495759.6:c.*686dup | ENSP00000433514.2:n.*686dup | |
| ENST00000674535.1:c.2076dup | ENSP00000502142.1:p.Arg693GlufsTer? | |
| ENST00000674704.1:n.3883dup | ||
| ENST00000674836.1:n.2381dup | ||
| ENST00000674890.1:c.2076dup | ENSP00000501870.1:p.Arg693GlufsTer? | |
| ENST00000674938.1:c.1734dup | ENSP00000502427.1:p.Arg579GlufsTer? | |
| ENST00000674948.1:c.1734dup | ENSP00000501602.1:p.Arg579GlufsTer? | |
| ENST00000675052.1:c.2076dup | ENSP00000502664.1:p.Arg693GlufsTer? | |
| ENST00000675078.1:c.2076dup | ENSP00000501549.1:p.Arg693GlufsTer? | |
| ENST00000675215.1:c.*1300dup | ENSP00000502558.1:n.*1300dup | |
| ENST00000675233.1:n.3903dup | ||
| ENST00000675321.1:c.2076dup | ENSP00000502751.1:p.Arg693GlufsTer? | |
| ENST00000675325.1:n.3872dup | ||
| ENST00000675335.1:c.2107dup | ENSP00000502182.1:n.2107dup | |
| ENST00000675400.1:n.3749dup | ||
| ENST00000675406.1:c.2076dup | ENSP00000501893.1:p.Arg693GlufsTer? | |
| ENST00000675458.1:c.2169dup | ENSP00000501754.1:n.2169dup | |
| ENST00000675507.1:n.3872dup | ||
| ENST00000675535.1:c.2076dup | ENSP00000501667.1:p.Arg693GlufsTer? | |
| ENST00000675566.1:n.3872dup | ||
| ENST00000675602.1:n.5124dup | ||
| ENST00000675647.1:n.2381dup | ||
| ENST00000675711.1:c.2076dup | ENSP00000502485.1:p.Arg693GlufsTer? | |
| ENST00000675727.1:c.2076dup | ENSP00000501722.1:p.Arg693GlufsTer? | |
| ENST00000675748.1:n.3710dup | ||
| ENST00000675765.1:c.2076dup | ENSP00000502640.1:p.Arg693GlufsTer? | |
| ENST00000675825.1:c.2076dup | ENSP00000502632.1:p.Arg693GlufsTer? | |
| ENST00000675877.1:n.2381dup | ||
| ENST00000675893.1:c.*3145dup | ENSP00000502001.1:n.*3145dup | |
| ENST00000675943.1:n.5691dup | ||
| ENST00000675979.1:c.*1319dup | ENSP00000502208.1:n.*1319dup | |
| ENST00000676044.1:c.2076dup | ENSP00000502378.1:p.Arg693GlufsTer? | |
| ENST00000676086.1:n.3861dup | ||
| ENST00000676121.1:n.3904dup | ||
| ENST00000676237.1:c.1977dup | ENSP00000501828.1:p.Arg660GlufsTer? | |
| ENST00000676416.1:c.1734dup | ENSP00000501660.1:p.Arg579GlufsTer? | |
| ENST00000676424.1:n.3872dup | ||
| ENST00000676429.1:n.6545dup | ||
| ENST00000374647.9:c.2076dup | ENSP00000363779.5:p.Arg693GlufsTer? | |
| ENST00000537196.1:c.1029dup | ENSP00000439367.1:p.Arg344GlufsTer? | |
| NM_003640.3:c.2076dup , LRG_251t1:c.2076dup | NP_003631.2:p.Arg693GlufsTer? | |
| XM_005252285.2:c.1734dup | XP_005252342.1:p.Arg579GlufsTer? | |
| XM_011519136.1:c.2076dup | XP_011517438.1:p.Arg693GlufsTer? | |
| XM_011519137.1:c.1734dup | XP_011517439.1:p.Arg579GlufsTer? | |
| XR_929859.1:n.2392dup | ||
| NM_001318360.1:c.1734dup | NP_001305289.1:p.Arg579GlufsTer? | |
| NM_001330749.1:c.1029dup | NP_001317678.1:p.Arg344GlufsTer? | |
| NM_003640.4:c.2076dup | NP_003631.2:p.Arg693GlufsTer? | |
| XM_011519136.2:c.2076dup | XP_011517438.1:p.Arg693GlufsTer? | |
| XR_929859.3:n.2403dup | ||
| NM_003640.5:c.2076dup MANE Select | NP_003631.2:p.Arg693GlufsTer? | |
| NM_001318360.2:c.1734dup | NP_001305289.1:p.Arg579GlufsTer? | |
| NM_001330749.2:c.1029dup | NP_001317678.1:p.Arg344GlufsTer? |