Linked Data
ClinVar Variation Id:
371504
ClinVar RCV Id:
RCV000412106
dbSNP Id:
rs1057517322
MyVariant Identifiers:
chr1:g.21902316_21902319dupGCAG (hg19)
chr1:g.21575823_21575826dupGCAG (hg38)
PubMed:
PMID:26783040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21575823_21575826dup , CM000663.2:g.21575823_21575826dup | GRCh38 |
| NC_000001.10:g.21902316_21902319dup , CM000663.1:g.21902316_21902319dup | GRCh37 |
| NC_000001.9:g.21774903_21774906dup | NCBI36 |
| NG_008940.1:g.71459_71462dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.1088_1091dup MANE Select | ENSP00000363973.3:p.Ser364ArgfsTer? | |
| ENST00000374829.2:n.357_360dup | ||
| ENST00000374830.2:c.163_166dup | ||
| ENST00000374832.5:c.1088_1091dup | ENSP00000363965.1:p.Ser364ArgfsTer? | |
| ENST00000374840.7:c.1088_1091dup | ENSP00000363973.3:p.Ser364ArgfsTer? | |
| ENST00000539907.5:c.857_860dup | ENSP00000437674.1:p.Ser287ArgfsTer? | |
| ENST00000540617.5:c.923_926dup | ENSP00000442672.1:p.Ser309ArgfsTer? | |
| NM_000478.4:c.1088_1091dup | NP_000469.3:p.Ser364ArgfsTer? | |
| NM_001127501.2:c.923_926dup | NP_001120973.2:p.Ser309ArgfsTer? | |
| NM_001177520.1:c.857_860dup | NP_001170991.1:p.Ser287ArgfsTer? | |
| XM_005245818.1:c.1088_1091dup | XP_005245875.1:p.Ser364ArgfsTer? | |
| XM_006710546.1:c.1088_1091dup | XP_006710609.1:p.Ser364ArgfsTer? | |
| NM_000478.5:c.1088_1091dup | NP_000469.3:p.Ser364ArgfsTer? | |
| NM_001127501.3:c.923_926dup | NP_001120973.2:p.Ser309ArgfsTer? | |
| NM_001177520.2:c.857_860dup | NP_001170991.1:p.Ser287ArgfsTer? | |
| XM_006710546.3:c.1088_1091dup | XP_006710609.1:p.Ser364ArgfsTer? | |
| XM_017000903.1:c.932_935dup | XP_016856392.1:p.Ser312ArgfsTer? | |
| NM_000478.6:c.1088_1091dup MANE Select | NP_000469.3:p.Ser364ArgfsTer? | |
| NM_001127501.4:c.923_926dup | NP_001120973.2:p.Ser309ArgfsTer? | |
| NM_001177520.3:c.857_860dup | NP_001170991.1:p.Ser287ArgfsTer? | |
| NM_001369803.2:c.1088_1091dup | NP_001356732.1:p.Ser364ArgfsTer? | |
| NM_001369804.2:c.1088_1091dup | NP_001356733.1:p.Ser364ArgfsTer? | |
| NM_001369805.2:c.1088_1091dup | NP_001356734.1:p.Ser364ArgfsTer? |