Linked Data
ClinVar Variation Id:
4847
ClinVar RCV Id:
RCV000005120
RCV000167521
RCV000188471
RCV000706286
RCV001257702
RCV001813954
RCV002415399
dbSNP Id:
rs587784365
gnomAD v2:
19-50365057-T-TGTTGTCGATGGCGACCC
gnomAD v3:
19-49861800-T-TGTTGTCGATGGCGACCC
gnomAD v4:
19-49861800-T-TGTTGTCGATGGCGACCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861804_49861820dup , CM000681.2:g.49861804_49861820dup | GRCh38 |
| NC_000019.9:g.50365061_50365077dup , CM000681.1:g.50365061_50365077dup | GRCh37 |
| NC_000019.8:g.55056873_55056889dup | NCBI36 |
| NG_027717.1:g.10749_10765dup | |
| NG_050666.1:g.17961_17977dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1253_1269dup MANE Select | ENSP00000323511.2:p.Thr424GlyfsTer? | |
| ENST00000322344.7:c.1253_1269dup | ENSP00000323511.2:p.Thr424GlyfsTer? | |
| ENST00000593946.5:c.*1180_*1196dup | ENSP00000468896.1:n.*1180_*1196dup | |
| ENST00000594661.5:n.1754_1770dup | ||
| ENST00000595081.5:n.80_96dup | ||
| ENST00000596014.5:c.1253_1269dup | ENSP00000472300.1:p.Thr424GlyfsTer? | |
| ENST00000599454.5:n.97_113dup | ||
| ENST00000600573.5:c.1160_1176dup | ENSP00000469826.1:p.Thr393GlyfsTer? | |
| ENST00000600910.5:c.1189-122_1189-106dup | ENSP00000473137.1:n.1189-122_1189-106dup | |
| ENST00000601816.3:n.152_168dup | ||
| ENST00000625216.2:c.334_350dup | ENSP00000486898.1:n.334_350dup | |
| ENST00000627232.2:c.1173_1189dup | ENSP00000486037.1:n.1173_1189dup | |
| ENST00000631020.2:c.1145_1161dup | ENSP00000486707.1:p.Thr388GlyfsTer? | |
| NM_007254.3:c.1253_1269dup | NP_009185.2:p.Thr424GlyfsTer? | |
| NM_007254.4:c.1253_1269dup MANE Select | NP_009185.2:p.Thr424GlyfsTer? |