Linked Data
ClinVar Variation Id:
65626
dbSNP Id:
rs397515538
ExAC:
6:45390354 G / GC
gnomAD v2:
6-45390354-G-GC
gnomAD v4:
6-45422617-G-GC
MyVariant Identifiers:
chr6:g.45390361dupC (hg19)
chr6:g.45390355_45390356insC (hg19)
chr6:g.45390354_45390355insC (hg19)
chr6:g.45422624dupC (hg38)
chr6:g.45422618_45422619insC (hg38)
chr6:g.45422617_45422618insC (hg38)
PubMed:
PMID:20301686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45422624dup , CM000668.2:g.45422624dup | GRCh38 |
| NC_000006.11:g.45390361dup , CM000668.1:g.45390361dup | GRCh37 |
| NC_000006.10:g.45498339dup | NCBI36 |
| NG_008020.1:g.99308dup | |
| NG_008020.2:g.99308dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.48dup | ENSP00000496517.1:p.Ser17LeufsTer? | |
| ENST00000647337.2:c.90dup MANE Select | ENSP00000495497.1:p.Ser31LeufsTer? | |
| ENST00000359524.7:c.48dup | ENSP00000352514.5:p.Ser17LeufsTer? | |
| ENST00000371432.7:c.90dup | ENSP00000360486.4:p.Ser31LeufsTer? | |
| ENST00000371436.10:c.90dup | ENSP00000360491.6:p.Ser31LeufsTer? | |
| ENST00000371438.5:c.90dup | ENSP00000360493.1:p.Ser31LeufsTer? | |
| ENST00000465038.6:c.90dup | ENSP00000420707.2:p.Ser31LeufsTer? | |
| ENST00000478660.6:c.48dup | ENSP00000460188.1:p.Ser17LeufsTer? | |
| ENST00000483377.5:c.59-9239dup | ENSP00000461357.1:n.59-9239dup | |
| ENST00000576263.5:c.90dup | ENSP00000458178.1:p.Ser31LeufsTer? | |
| ENST00000625924.1:c.48dup | ENSP00000485863.1:p.Ser17LeufsTer? | |
| NM_001015051.3:c.90dup | NP_001015051.3:p.Ser31LeufsTer? | |
| NM_001024630.3:c.90dup | NP_001019801.3:p.Ser31LeufsTer? | |
| NM_001278478.1:c.48dup | NP_001265407.1:p.Ser17LeufsTer? | |
| XM_006715232.1:c.48dup | XP_006715295.1:p.Ser17LeufsTer? | |
| XM_011514960.1:c.294dup | XP_011513262.1:p.Ser99LeufsTer? | |
| XM_011514961.1:c.294dup | XP_011513263.1:p.Ser99LeufsTer? | |
| XM_011514962.1:c.294dup | XP_011513264.1:p.Ser99LeufsTer? | |
| XM_011514963.1:c.294dup | XP_011513265.1:p.Ser99LeufsTer? | |
| XM_011514964.1:c.294dup | XP_011513266.1:p.Ser99LeufsTer? | |
| XM_011514965.1:c.294dup | XP_011513267.1:p.Ser99LeufsTer? | |
| XM_011514967.1:c.294dup | XP_011513269.1:p.Ser99LeufsTer? | |
| XM_011514968.1:c.294dup | XP_011513270.1:p.Ser99LeufsTer? | |
| XR_926323.1:n.806dup | ||
| NM_001024630.4:c.90dup MANE Select | NP_001019801.3:p.Ser31LeufsTer? | |
| NM_001278478.2:c.48dup | NP_001265407.1:p.Ser17LeufsTer? | |
| NM_001369405.1:c.48dup | NP_001356334.1:p.Ser17LeufsTer? | |
| NM_001015051.4:c.90dup | NP_001015051.3:p.Ser31LeufsTer? |