Linked Data
ClinVar Variation Id:
1971612
ClinVar RCV Id:
RCV002740872
dbSNP Id:
rs544465774
gnomAD v3:
7-19117045-T-TGCCGCCGCCGCCGCCCGC
gnomAD v4:
7-19117045-T-TGCCGCCGCCGCCGCCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117061_19117078dup , CM000669.2:g.19117061_19117078dup | GRCh38 |
| NC_000007.13:g.19156684_19156701dup , CM000669.1:g.19156684_19156701dup | GRCh37 |
| NC_000007.12:g.19123209_19123226dup | NCBI36 |
| NG_008114.1:g.5610_5627dup | |
| NG_008114.2:g.5610_5627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.259_276dup MANE Select | ENSP00000242261.5:p.Gly92_Ser93insAlaGlyGlyGlyGlyGly | |
| ENST00000242261.5:c.259_276dup | ENSP00000242261.5:p.Gly92_Ser93insAlaGlyGlyGlyGlyGly | |
| ENST00000354571.5:c.56_73dup | ||
| NM_000474.3:c.259_276dup | NP_000465.1:p.Gly92_Ser93insAlaGlyGlyGlyGlyGly | |
| XM_011515496.1:c.259_276dup | XP_011513798.1:p.Gly92_Ser93insAlaGlyGlyGlyGlyGly | |
| NR_149001.1:n.610_627dup | ||
| NM_000474.4:c.259_276dup MANE Select | NP_000465.1:p.Gly92_Ser93insAlaGlyGlyGlyGlyGly | |
| NR_149001.2:n.574_591dup |