Linked Data
ClinVar Variation Id:
36391
ClinVar RCV Id:
RCV000030060
dbSNP Id:
rs193922640
MyVariant Identifiers:
chr5:g.35867457_35867466dupATATATTTCA (hg19)
chr5:g.35867355_35867364dupATATATTTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867355_35867364dup , CM000667.2:g.35867355_35867364dup | GRCh38 |
| NC_000005.9:g.35867457_35867466dup , CM000667.1:g.35867457_35867466dup | GRCh37 |
| NC_000005.8:g.35903214_35903223dup | NCBI36 |
| NG_009567.1:g.15467_15476dup , LRG_74:g.15467_15476dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.271_280dup MANE Select | ENSP00000306157.3:p.Ile94AsnfsTer? | |
| ENST00000303115.7:c.271_280dup | ENSP00000306157.3:p.Ile94AsnfsTer? | |
| ENST00000506850.5:c.271_280dup | ENSP00000421207.1:p.Ile94AsnfsTer? | |
| ENST00000511031.1:n.405_414dup | ||
| ENST00000511982.1:c.271_280dup | ENSP00000425309.1:p.Ile94AsnfsTer? | |
| ENST00000514217.5:c.271_280dup | ENSP00000427688.1:p.Ile94AsnfsTer? | |
| NM_002185.3:c.271_280dup | NP_002176.2:p.Ile94AsnfsTer? | |
| NR_120485.1:n.374_383dup | ||
| XM_005248299.2:c.271_280dup | XP_005248356.1:p.Ile94AsnfsTer? | |
| XM_005248300.1:c.271_280dup | XP_005248357.1:p.Ile94AsnfsTer? | |
| XM_011514037.1:c.271_280dup | XP_011512339.1:p.Ile94AsnfsTer? | |
| NM_002185.4:c.271_280dup | NP_002176.2:p.Ile94AsnfsTer? | |
| NR_120485.2:n.400_409dup | ||
| XM_005248299.4:c.271_280dup | XP_005248356.1:p.Ile94AsnfsTer? | |
| NM_002185.5:c.271_280dup MANE Select | NP_002176.2:p.Ile94AsnfsTer? | |
| NR_120485.3:n.358_367dup |