Linked Data
ClinVar Variation Id:
246532
ClinVar RCV Id:
RCV000235976
dbSNP Id:
rs749963147
ExAC:
5:148407494 A / AGGCC
gnomAD v2:
5-148407494-A-AGGCC
gnomAD v4:
5-149027931-A-AGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027932_149027935dup , CM000667.2:g.149027932_149027935dup | GRCh38 |
| NC_000005.9:g.148407495_148407498dup , CM000667.1:g.148407495_148407498dup | GRCh37 |
| NC_000005.8:g.148387688_148387691dup | NCBI36 |
| NG_007947.2:g.40240_40243dup , LRG_269:g.40240_40243dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.1693_1696dup | ||
| ENST00000515425.6:c.1797_1800dup MANE Select | ENSP00000423660.1:p.Cys601GlyfsTer5 | |
| ENST00000675793.1:c.*1081_*1084dup | ENSP00000502039.1:n.*1081_*1084dup | |
| ENST00000676056.1:c.*1307_*1310dup | ENSP00000501827.1:n.*1307_*1310dup | |
| ENST00000323829.9:c.*1185_*1188dup | ENSP00000313025.5:n.*1185_*1188dup | |
| ENST00000504517.5:c.1327_1330dup | ENSP00000421779.1:n.1327_1330dup | |
| ENST00000504690.5:c.1797_1800dup | ENSP00000425627.1:p.Cys601GlyfsTer5 | |
| ENST00000510779.1:c.847_850dup | ||
| ENST00000511307.5:c.*1577_*1580dup | ENSP00000421420.1:n.*1577_*1580dup | |
| ENST00000512049.5:c.1776_1779dup | ENSP00000421860.1:p.Cys594GlyfsTer5 | |
| ENST00000513604.5:c.*1185_*1188dup | ENSP00000423111.1:n.*1185_*1188dup | |
| ENST00000515425.5:c.1797_1800dup | ENSP00000423660.1:p.Cys601GlyfsTer5 | |
| NM_024577.3:c.1797_1800dup , LRG_269t1:c.1797_1800dup | NP_078853.2:p.Cys601GlyfsTer5 | |
| NM_024577.4:c.1797_1800dup MANE Select | NP_078853.2:p.Cys601GlyfsTer5 |