Linked Data
ClinVar Variation Id:
96338
ClinVar RCV Id:
RCV000173920
dbSNP Id:
rs398124467
MyVariant Identifiers:
chr5:g.36985908dup (hg19)
chr5:g.36985908dupG (hg19)
chr5:g.36985806dupG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36985806dup , CM000667.2:g.36985806dup | GRCh38 |
| NC_000005.9:g.36985908dup , CM000667.1:g.36985908dup | GRCh37 |
| NC_000005.8:g.37021665dup | NCBI36 |
| NG_006987.1:g.113924dup | |
| NG_006987.2:g.113924dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.2626dup MANE Select | ENSP00000282516.8:p.Asp876GlyfsTer16 | |
| ENST00000652901.1:c.2626dup | ENSP00000499536.1:p.Asp876GlyfsTer16 | |
| ENST00000282516.12:c.2626dup | ENSP00000282516.8:p.Asp876GlyfsTer16 | |
| ENST00000448238.2:c.2626dup | ENSP00000406266.2:p.Asp876GlyfsTer16 | |
| ENST00000504430.5:n.2246dup | ||
| ENST00000621733.1:c.1-78772dup | ENSP00000480694.1:n.1-78772dup | |
| NM_015384.4:c.2626dup | NP_056199.2:p.Asp876GlyfsTer16 | |
| NM_133433.3:c.2626dup | NP_597677.2:p.Asp876GlyfsTer16 | |
| XM_005248280.2:c.2626dup | XP_005248337.1:p.Asp876GlyfsTer16 | |
| XM_005248282.3:c.1882dup | XP_005248339.2:p.Asp628GlyfsTer16 | |
| XM_006714467.2:c.2626dup | XP_006714530.1:p.Asp876GlyfsTer16 | |
| XM_006714468.1:c.2626dup | XP_006714531.1:p.Asp876GlyfsTer16 | |
| XM_011514014.1:c.2626dup | XP_011512316.1:p.Asp876GlyfsTer16 | |
| XM_011514015.1:c.2626dup | XP_011512317.1:p.Asp876GlyfsTer16 | |
| XM_005248280.3:c.2626dup | XP_005248337.1:p.Asp876GlyfsTer16 | |
| XM_005248282.5:c.1966dup | XP_005248339.3:p.Asp656GlyfsTer16 | |
| XM_006714468.2:c.2626dup | XP_006714531.1:p.Asp876GlyfsTer16 | |
| XM_017009329.1:c.2626dup | XP_016864818.1:p.Asp876GlyfsTer16 | |
| XM_017009330.2:c.1009dup | XP_016864819.1:p.Asp337GlyfsTer16 | |
| XM_017009331.1:c.1495+9404dup | XP_016864820.1:n.1495+9404dup | |
| NM_133433.4:c.2626dup MANE Select | NP_597677.2:p.Asp876GlyfsTer16 | |
| NM_015384.5:c.2626dup | NP_056199.2:p.Asp876GlyfsTer16 |