Linked Data
ClinVar Variation Id:
428101
ClinVar RCV Id:
RCV000491927
dbSNP Id:
rs1114167552
MyVariant Identifiers:
chr5:g.112175973dup (hg19)
chr5:g.112175970_112175971insA (hg19)
chr5:g.112840276dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840276dup , CM000667.2:g.112840276dup | GRCh38 |
| NC_000005.9:g.112175973dup , CM000667.1:g.112175973dup | GRCh37 |
| NC_000005.8:g.112203872dup | NCBI36 |
| NG_008481.4:g.152756dup , LRG_130:g.152756dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4736dup | ENSP00000473355.2:p.Asp1580GlyfsTer5 | |
| ENST00000505350.2:c.*4688dup | ENSP00000481752.1:n.*4688dup | |
| ENST00000507379.6:c.4628dup | ENSP00000423224.2:p.Asp1544GlyfsTer5 | |
| ENST00000509732.6:c.4682dup | ENSP00000426541.2:p.Asp1562GlyfsTer5 | |
| ENST00000512211.7:c.4682dup | ENSP00000423828.3:p.Asp1562GlyfsTer5 | |
| ENST00000257430.9:c.4682dup MANE Select | ENSP00000257430.4:p.Asp1562GlyfsTer5 | |
| ENST00000257430.8:c.4682dup | ENSP00000257430.4:p.Asp1562GlyfsTer5 | |
| ENST00000508376.6:c.4682dup | ENSP00000427089.2:p.Asp1562GlyfsTer5 | |
| ENST00000508624.5:c.*4004dup | ENSP00000424265.1:n.*4004dup | |
| ENST00000520401.1:c.230+11304dup | ||
| NM_000038.5:c.4682dup | NP_000029.2:p.Asp1562GlyfsTer5 | |
| NM_001127510.2:c.4682dup | NP_001120982.1:p.Asp1562GlyfsTer5 | |
| NM_001127511.2:c.4628dup | NP_001120983.2:p.Asp1544GlyfsTer5 | |
| NM_001354895.1:c.4682dup | NP_001341824.1:p.Asp1562GlyfsTer5 | |
| NM_001354896.1:c.4736dup | NP_001341825.1:p.Asp1580GlyfsTer5 | |
| NM_001354897.1:c.4712dup | NP_001341826.1:p.Asp1572GlyfsTer5 | |
| NM_001354898.1:c.4607dup | NP_001341827.1:p.Asp1537GlyfsTer5 | |
| NM_001354899.1:c.4598dup | NP_001341828.1:p.Asp1534GlyfsTer5 | |
| NM_001354900.1:c.4559dup | NP_001341829.1:p.Asp1521GlyfsTer5 | |
| NM_001354901.1:c.4505dup | NP_001341830.1:p.Asp1503GlyfsTer5 | |
| NM_001354902.1:c.4409dup | NP_001341831.1:p.Asp1471GlyfsTer5 | |
| NM_001354903.1:c.4379dup | NP_001341832.1:p.Asp1461GlyfsTer5 | |
| NM_001354904.1:c.4304dup | NP_001341833.1:p.Asp1436GlyfsTer5 | |
| NM_001354905.1:c.4202dup | NP_001341834.1:p.Asp1402GlyfsTer5 | |
| NM_001354906.1:c.3833dup | NP_001341835.1:p.Asp1279GlyfsTer5 | |
| NM_000038.6:c.4682dup MANE Select | NP_000029.2:p.Asp1562GlyfsTer5 | |
| NM_001127510.3:c.4682dup | NP_001120982.1:p.Asp1562GlyfsTer5 | |
| NM_001127511.3:c.4628dup | NP_001120983.2:p.Asp1544GlyfsTer5 | |
| NM_001354895.2:c.4682dup | NP_001341824.1:p.Asp1562GlyfsTer5 | |
| NM_001354896.2:c.4736dup | NP_001341825.1:p.Asp1580GlyfsTer5 | |
| NM_001354897.2:c.4712dup | NP_001341826.1:p.Asp1572GlyfsTer5 | |
| NM_001354898.2:c.4607dup | NP_001341827.1:p.Asp1537GlyfsTer5 | |
| NM_001354899.2:c.4598dup | NP_001341828.1:p.Asp1534GlyfsTer5 | |
| NM_001354900.2:c.4559dup | NP_001341829.1:p.Asp1521GlyfsTer5 | |
| NM_001354901.2:c.4505dup | NP_001341830.1:p.Asp1503GlyfsTer5 | |
| NM_001354902.2:c.4409dup | NP_001341831.1:p.Asp1471GlyfsTer5 | |
| NM_001354903.2:c.4379dup | NP_001341832.1:p.Asp1461GlyfsTer5 | |
| NM_001354904.2:c.4304dup | NP_001341833.1:p.Asp1436GlyfsTer5 | |
| NM_001354905.2:c.4202dup | NP_001341834.1:p.Asp1402GlyfsTer5 | |
| NM_001354906.2:c.3833dup | NP_001341835.1:p.Asp1279GlyfsTer5 |