Linked Data
ClinVar Variation Id:
235829
ClinVar RCV Id:
RCV000224820
dbSNP Id:
rs878853126
MyVariant Identifiers:
chr17:g.10542393_10542395dupATT (hg19)
chr17:g.10542392_10542393insATT (hg19)
chr17:g.10639076_10639078dupATT (hg38)
chr17:g.10639075_10639076insATT (hg38)
PubMed:
PMID:25957469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639076_10639078dup , CM000679.2:g.10639076_10639078dup | GRCh38 |
| NC_000017.10:g.10542393_10542395dup , CM000679.1:g.10542393_10542395dup | GRCh37 |
| NC_000017.9:g.10483118_10483120dup | NCBI36 |
| NG_011537.1:g.23221_23223dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583535.6:c.3214_3216dup MANE Select | ENSP00000464317.1:p.Asn1072_Asp1073insAsn... | |
| ENST00000583535.5:c.3214_3216dup | ENSP00000464317.1:p.Asn1072_Asp1073insAsn... | |
| NM_002470.3:c.3214_3216dup | NP_002461.2:p.Asn1072_Asp1073insAsn | |
| XM_011523870.1:c.3214_3216dup | XP_011522172.1:p.Asn1072_Asp1073insAsn | |
| XM_011523871.1:c.3214_3216dup | XP_011522173.1:p.Asn1072_Asp1073insAsn | |
| XM_011523872.1:c.3214_3216dup | XP_011522174.1:p.Asn1072_Asp1073insAsn | |
| XM_011523870.3:c.3214_3216dup | XP_011522172.1:p.Asn1072_Asp1073insAsn | |
| XM_011523871.2:c.3214_3216dup | XP_011522173.1:p.Asn1072_Asp1073insAsn | |
| NM_002470.4:c.3214_3216dup MANE Select | NP_002461.2:p.Asn1072_Asp1073insAsn |