ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90644841dup , CM000667.2:g.90644841dup | GRCh38 |
| NC_000005.9:g.89940658dup , CM000667.1:g.89940658dup | GRCh37 |
| NC_000005.8:g.89976414dup | NCBI36 |
| NG_007083.1:g.91042dup | |
| NG_007083.2:g.120498dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.2870dup MANE Select | ENSP00000384582.2:p.Asn957LysfsTer10 | |
| ENST00000504142.2:n.1636dup | ||
| ENST00000639676.1:n.468dup | ||
| ENST00000640403.1:c.173dup | ENSP00000492531.1:p.Asn58LysfsTer10 | |
| ENST00000405460.6:c.2870dup | ENSP00000384582.2:p.Asn957LysfsTer10 | |
| ENST00000504142.1:c.1635dup | ||
| NM_032119.3:c.2870dup | NP_115495.3:p.Asn957LysfsTer10 | |
| NR_003149.1:n.2966dup | ||
| XM_011543675.1:c.2870dup | XP_011541977.1:p.Asn957LysfsTer10 | |
| XM_011543676.1:c.2870dup | XP_011541978.1:p.Asn957LysfsTer10 | |
| XM_011543677.1:c.173dup | XP_011541979.1:p.Asn58LysfsTer10 | |
| XM_011543678.1:c.2870dup | XP_011541980.1:p.Asn957LysfsTer10 | |
| XM_011543679.1:c.2870dup | XP_011541981.1:p.Asn957LysfsTer10 | |
| NM_032119.4:c.2870dup MANE Select | NP_115495.3:p.Asn957LysfsTer10 | |
| XM_017009963.2:c.2870dup | XP_016865452.1:p.Asn957LysfsTer10 | |
| XM_017009964.2:c.2870dup | XP_016865453.1:p.Asn957LysfsTer10 | |
| XM_017009965.1:c.2867dup | XP_016865454.1:p.Asn956LysfsTer10 | |
| XM_017009966.2:c.2870dup | XP_016865455.1:p.Asn957LysfsTer10 | |
| XM_017009967.1:c.2774dup | XP_016865456.1:p.Asn925LysfsTer10 | |
| XM_017009968.2:c.2870dup | XP_016865457.1:p.Asn957LysfsTer10 | |
| XM_017009969.2:c.2870dup | XP_016865458.1:p.Asn957LysfsTer10 | |
| XM_017009970.2:c.2870dup | XP_016865459.1:p.Asn957LysfsTer10 | |
| XM_017009971.2:c.2870dup | XP_016865460.1:p.Asn957LysfsTer10 | |
| XM_017009974.2:c.2870dup | XP_016865463.1:p.Asn957LysfsTer10 | |
| NR_003149.2:n.2969dup |