Linked Data
ClinVar Variation Id:
1241489
ClinVar RCV Id:
RCV001645234
dbSNP Id:
rs199711555
gnomAD v2:
7-42187729-A-AGC
gnomAD v3:
7-42148130-A-AGC
gnomAD v4:
7-42148130-A-AGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42148135_42148136dup , CM000669.2:g.42148135_42148136dup | GRCh38 |
| NC_000007.13:g.42187734_42187735dup , CM000669.1:g.42187734_42187735dup | GRCh37 |
| NC_000007.12:g.42154259_42154260dup | NCBI36 |
| NG_008434.1:g.93888_93889dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.367+94_367+95dup MANE Select | ENSP00000379258.3:n.367+94_367+95dup | |
| ENST00000642432.1:c.190+94_190+95dup | ENSP00000495498.1:n.190+94_190+95dup | |
| ENST00000643264.1:c.190+94_190+95dup | ENSP00000495207.1:n.190+94_190+95dup | |
| ENST00000647255.1:c.190+94_190+95dup | ENSP00000495745.1:n.190+94_190+95dup | |
| ENST00000677288.1:c.190+94_190+95dup | ENSP00000503986.1:n.190+94_190+95dup | |
| ENST00000677605.1:c.367+94_367+95dup | ENSP00000503743.1:n.367+94_367+95dup | |
| ENST00000678429.1:c.367+94_367+95dup | ENSP00000502957.1:n.367+94_367+95dup | |
| ENST00000395925.7:c.367+94_367+95dup | ENSP00000379258.3:n.367+94_367+95dup | |
| ENST00000448703.5:c.367+94_367+95dup | ENSP00000406135.1:n.367+94_367+95dup | |
| ENST00000479210.1:n.344+94_344+95dup | ||
| NM_000168.5:c.367+94_367+95dup | NP_000159.3:n.367+94_367+95dup | |
| XM_005249703.1:c.367+94_367+95dup | XP_005249760.1:n.367+94_367+95dup | |
| XM_005249704.2:c.367+94_367+95dup | XP_005249761.1:n.367+94_367+95dup | |
| XM_011515272.1:c.367+94_367+95dup | XP_011513574.1:n.367+94_367+95dup | |
| XM_011515273.1:c.367+94_367+95dup | XP_011513575.1:n.367+94_367+95dup | |
| XM_011515274.1:c.190+94_190+95dup | XP_011513576.1:n.190+94_190+95dup | |
| XM_011515274.2:c.190+94_190+95dup | XP_011513576.1:n.190+94_190+95dup | |
| XM_017011997.1:c.364+94_364+95dup | XP_016867486.1:n.364+94_364+95dup | |
| NM_000168.6:c.367+94_367+95dup MANE Select | NP_000159.3:n.367+94_367+95dup |