Linked Data
ClinVar Variation Id:
217110
ClinVar RCV Id:
RCV000200923
dbSNP Id:
rs1555614386
MyVariant Identifiers:
chr17:g.29556702_29557113dup (hg19)
chr17:g.29556702_29557113dup412 (hg19)
chr17:g.31229684_31230095dup (hg38)
chr17:g.31229684_31230095dup412 (hg38)
PubMed:
PMID:26189818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31229684_31230095dup , CM000679.2:g.31229684_31230095dup | GRCh38 |
| NC_000017.10:g.29556702_29557113dup , CM000679.1:g.29556702_29557113dup | GRCh37 |
| NC_000017.9:g.26580828_26581239dup | NCBI36 |
| NG_009018.1:g.139708_140119dup , LRG_214:g.139708_140119dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.2896-151_3035+121dup | ||
| ENST00000696139.1:c.196-151_335+121dup | ||
| ENST00000691014.1:c.2881-151_3020+121dup | ||
| ENST00000358273.9:c.2851-151_2990+121dup | ||
| ENST00000356175.7:c.2851-151_2990+121dup | ||
| ENST00000358273.8:c.2851-151_2990+121dup | ||
| ENST00000456735.6:c.1849-151_1988+121dup | ||
| ENST00000493220.5:n.1236_1526+121dup | ||
| ENST00000495910.6:c.2626-151_2765+121dup | ||
| ENST00000579081.5:c.2953-151_3092+121dup | ||
| NM_000267.3:c.2851-151_2990+121dup , LRG_214t1:c.2851-151_2990+121dup | ||
| NM_001042492.2:c.2851-151_2990+121dup , LRG_214t2:c.2851-151_2990+121dup | ||
| XM_005257983.1:c.2851-151_2990+121dup | ||
| XM_005257984.1:c.2851-151_2990+121dup | ||
| XM_006721922.1:c.2881-151_3020+121dup | ||
| XM_006721923.2:c.2842-151_2981+121dup | ||
| XM_006721924.1:c.2881-151_3020+121dup | ||
| XM_006721925.1:c.2881-151_3020+121dup | ||
| XM_006721926.2:c.2881-151_3020+121dup | ||
| XM_006721927.1:c.2881-151_3020+121dup | ||
| XM_006721928.2:c.2881-151_3020+121dup | ||
| XM_011524852.1:c.2878-151_3017+121dup | ||
| XM_011524853.1:c.2842-151_2981+121dup | ||
| XM_011524854.1:c.2842-151_2981+121dup | ||
| XM_011524855.1:c.2842-151_2981+121dup | ||
| XM_011524856.1:c.2842-151_2981+121dup | ||
| XM_011524857.1:c.2881-151_3020+121dup | ||
| NM_001042492.3:c.2851-151_2990+121dup |