Linked Data
ClinVar Variation Id:
545703
ClinVar RCV Id:
RCV000656737
dbSNP Id:
rs1253995767
gnomAD v3:
3-190404877-C-CATTA
gnomAD v4:
3-190404877-C-CATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404879_190404882dup , CM000665.2:g.190404879_190404882dup | GRCh38 |
| NC_000003.11:g.190122668_190122671dup , CM000665.1:g.190122668_190122671dup | GRCh37 |
| NC_000003.10:g.191605362_191605365dup | NCBI36 |
| NG_008149.1:g.21828_21831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.335_338dup MANE Select | ENSP00000264734.3:p.Lys113AsnfsTer2 | |
| ENST00000456423.2:c.115-5024_115-5021dup | ENSP00000414136.2:n.115-5024_115-5021dup | |
| ENST00000264734.2:c.545_548dup | ENSP00000264734.2:p.Lys183AsnfsTer2 | |
| ENST00000456423.1:c.325-5024_325-5021dup | ENSP00000414136.1:n.325-5024_325-5021dup | |
| ENST00000468220.1:n.527_530dup | ||
| NM_006580.3:c.545_548dup | NP_006571.1:p.Lys183AsnfsTer2 | |
| NM_001378492.1:c.335_338dup | NP_001365421.1:p.Lys113AsnfsTer2 | |
| NM_001378493.1:c.335_338dup | NP_001365422.1:p.Lys113AsnfsTer2 | |
| NM_006580.4:c.335_338dup MANE Select | NP_006571.2:p.Lys113AsnfsTer2 |