Linked Data
ClinVar Variation Id:
36394
ClinVar RCV Id:
RCV000030063
dbSNP Id:
rs193922643
MyVariant Identifiers:
chr5:g.35873660_35873661delinsTA (hg19)
chr5:g.35873558_35873559delinsTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873558_35873559delinsTA , CM000667.2:g.35873558_35873559delinsTA | GRCh38 |
| NC_000005.9:g.35873660_35873661delinsTA , CM000667.1:g.35873660_35873661delinsTA | GRCh37 |
| NC_000005.8:g.35909417_35909418delinsTA | NCBI36 |
| NG_009567.1:g.21670_21671delinsTA , LRG_74:g.21670_21671delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.616_617delinsTA MANE Select | ENSP00000306157.3:p.Arg206Ter | |
| ENST00000303115.7:c.616_617delinsTA | ENSP00000306157.3:p.Arg206Ter | |
| ENST00000505093.1:c.25_26delinsTA | ENSP00000426069.1:p.Arg9Ter | |
| ENST00000506850.5:c.616_617delinsTA | ENSP00000421207.1:p.Arg206Ter | |
| ENST00000509668.1:n.358_359delinsTA | ||
| ENST00000514217.5:c.538-1954_538-1953delinsTA | ENSP00000427688.1:n.538-1954_538-1953deli... | |
| NM_002185.3:c.616_617delinsTA | NP_002176.2:p.Arg206Ter | |
| NR_120485.1:n.641-1954_641-1953delinsTA | ||
| XM_005248299.2:c.616_617delinsTA | XP_005248356.1:p.Arg206Ter | |
| XM_005248300.1:c.616_617delinsTA | XP_005248357.1:p.Arg206Ter | |
| XM_011514037.1:c.616_617delinsTA | XP_011512339.1:p.Arg206Ter | |
| NM_002185.4:c.616_617delinsTA | NP_002176.2:p.Arg206Ter | |
| NR_120485.2:n.667-1954_667-1953delinsTA | ||
| XM_005248299.4:c.616_617delinsTA | XP_005248356.1:p.Arg206Ter | |
| NM_002185.5:c.616_617delinsTA MANE Select | NP_002176.2:p.Arg206Ter | |
| NR_120485.3:n.625-1954_625-1953delinsTA |