Linked Data
ClinVar Variation Id:
224841
dbSNP Id:
rs869312857
ExAC:
5:35867540 C / CA
gnomAD v2:
5-35867540-C-CA
gnomAD v3:
5-35867438-C-CA
gnomAD v4:
5-35867438-C-CA
MyVariant Identifiers:
chr5:g.35867547dupA (hg19)
chr5:g.35867541_35867542insA (hg19)
chr5:g.35867540_35867541insA (hg19)
chr5:g.35867445dupA (hg38)
chr5:g.35867439_35867440insA (hg38)
chr5:g.35867438_35867439insA (hg38)
PubMed:
PMID:25046553
ERepo:
CA357950/MONDO:0012163/119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867445dup , CM000667.2:g.35867445dup | GRCh38 |
| NC_000005.9:g.35867547dup , CM000667.1:g.35867547dup | GRCh37 |
| NC_000005.8:g.35903304dup | NCBI36 |
| NG_009567.1:g.15557dup , LRG_74:g.15557dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.361dup MANE Select | ENSP00000306157.3:p.Ile121AsnfsTer8 | |
| ENST00000303115.7:c.361dup | ENSP00000306157.3:p.Ile121AsnfsTer8 | |
| ENST00000506850.5:c.361dup | ENSP00000421207.1:p.Ile121AsnfsTer8 | |
| ENST00000511031.1:n.495dup | ||
| ENST00000511982.1:c.361dup | ENSP00000425309.1:p.Ile121AsnfsTer8 | |
| ENST00000514217.5:c.361dup | ENSP00000427688.1:p.Ile121AsnfsTer8 | |
| NM_002185.3:c.361dup | NP_002176.2:p.Ile121AsnfsTer8 | |
| NR_120485.1:n.464dup | ||
| XM_005248299.2:c.361dup | XP_005248356.1:p.Ile121AsnfsTer8 | |
| XM_005248300.1:c.361dup | XP_005248357.1:p.Ile121AsnfsTer8 | |
| XM_011514037.1:c.361dup | XP_011512339.1:p.Ile121AsnfsTer8 | |
| NM_002185.4:c.361dup | NP_002176.2:p.Ile121AsnfsTer8 | |
| NR_120485.2:n.490dup | ||
| XM_005248299.4:c.361dup | XP_005248356.1:p.Ile121AsnfsTer8 | |
| NM_002185.5:c.361dup MANE Select | NP_002176.2:p.Ile121AsnfsTer8 | |
| NR_120485.3:n.448dup |