Linked Data
dbSNP Id:
rs760979312
ExAC:
10:55568748 G / GTTCTT
gnomAD v2:
10-55568748-G-GTTCTT
gnomAD v3:
10-53808988-G-GTTCTT
gnomAD v4:
10-53808988-G-GTTCTT
MyVariant Identifiers:
chr10:g.55568748_55568749insTTCTT (hg19)
chr10:g.53808988_53808989insTTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53808991_53808995dup , CM000672.2:g.53808991_53808995dup | GRCh38 |
| NC_000010.10:g.55568751_55568755dup , CM000672.1:g.55568751_55568755dup | GRCh37 |
| NC_000010.9:g.55238757_55238761dup | NCBI36 |
| NG_009191.2:g.997299_997303dup | |
| NG_009191.3:g.1825190_1825194dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.5072_5076dup | ENSP00000482794.1:p.Pro1693LysfsTer? | |
| ENST00000395445.6:c.5051_5055dup | ENSP00000378832.2:p.Pro1686LysfsTer? | |
| ENST00000613657.5:c.5072_5076dup | ENSP00000482794.1:p.Pro1693LysfsTer? | |
| ENST00000642496.1:c.3530+1563_3530+1567dup | ||
| ENST00000644397.2:c.4671+1563_4671+1567dup MANE Select | ENSP00000495195.1:n.4671+1563_4671+1567dup | |
| ENST00000373965.6:c.4482+1563_4482+1567dup | ENSP00000363076.3:n.4482+1563_4482+1567dup | |
| ENST00000395438.5:c.*487_*491dup | ENSP00000378826.2:n.*487_*491dup | |
| ENST00000395440.5:c.1859_1863dup | ENSP00000378827.1:p.Pro622LysfsTer? | |
| ENST00000395442.5:c.1652_1656dup | ENSP00000378829.1:p.Pro553LysfsTer? | |
| ENST00000395445.5:c.5051_5055dup | ENSP00000378832.2:p.Pro1686LysfsTer? | |
| ENST00000395446.5:c.2645_2649dup | ENSP00000378833.1:p.Pro884LysfsTer? | |
| ENST00000409834.5:c.*487_*491dup | ENSP00000386693.1:n.*487_*491dup | |
| ENST00000414367.5:c.*1110_*1114dup | ENSP00000412531.1:n.*1110_*1114dup | |
| ENST00000414778.5:c.4479+1563_4479+1567dup | ENSP00000410304.2:n.4479+1563_4479+1567dup | |
| ENST00000476074.5:n.609+1563_609+1567dup | ||
| ENST00000495484.5:c.699+1563_699+1567dup | ENSP00000480780.1:n.699+1563_699+1567dup | |
| ENST00000612394.4:c.5069_5073dup | ENSP00000482921.1:p.Pro1692LysfsTer? | |
| ENST00000613657.4:c.5072_5076dup | ENSP00000482794.1:p.Pro1693LysfsTer? | |
| ENST00000614895.4:c.4494+1563_4494+1567dup | ENSP00000478512.1:n.4494+1563_4494+1567dup | |
| ENST00000615043.1:c.672_676dup | ||
| ENST00000616114.4:c.4476+1563_4476+1567dup | ENSP00000483745.1:n.4476+1563_4476+1567dup | |
| ENST00000617271.4:c.*487_*491dup | ENSP00000478076.1:n.*487_*491dup | |
| ENST00000618301.4:c.831+1563_831+1567dup | ENSP00000482780.1:n.831+1563_831+1567dup | |
| ENST00000621708.4:c.4497+1563_4497+1567dup | ENSP00000484454.1:n.4497+1563_4497+1567dup | |
| NM_001142769.1:c.5072_5076dup | NP_001136241.1:p.Pro1693LysfsTer? | |
| NM_001142770.1:c.*487_*491dup | NP_001136242.1:n.*487_*491dup | |
| NM_001142771.1:c.4497+1563_4497+1567dup | NP_001136243.1:n.4497+1563_4497+1567dup | |
| NM_001142772.1:c.4482+1563_4482+1567dup | NP_001136244.1:n.4482+1563_4482+1567dup | |
| NM_001142769.2:c.5072_5076dup | NP_001136241.1:p.Pro1693LysfsTer? | |
| NM_001142770.2:c.*487_*491dup | NP_001136242.1:n.*487_*491dup | |
| NM_001354411.1:c.5051_5055dup | NP_001341340.1:p.Pro1686LysfsTer? | |
| NM_001354420.1:c.4476+1563_4476+1567dup | NP_001341349.1:n.4476+1563_4476+1567dup | |
| NM_001354429.1:c.4605+1563_4605+1567dup | NP_001341358.1:n.4605+1563_4605+1567dup | |
| XM_017016573.2:c.5051_5055dup | XP_016872062.1:p.Pro1686LysfsTer? | |
| XR_001747192.2:n.10963+1563_10963+1567dup | ||
| XR_001747193.2:n.10954+1563_10954+1567dup | ||
| NM_001142769.3:c.5072_5076dup | NP_001136241.1:p.Pro1693LysfsTer? | |
| NM_001142770.3:c.*487_*491dup | NP_001136242.1:n.*487_*491dup | |
| NM_001142771.2:c.4497+1563_4497+1567dup | NP_001136243.1:n.4497+1563_4497+1567dup | |
| NM_001142772.2:c.4482+1563_4482+1567dup | NP_001136244.1:n.4482+1563_4482+1567dup | |
| NM_001354411.2:c.5051_5055dup | NP_001341340.1:p.Pro1686LysfsTer? | |
| NM_001354420.2:c.4476+1563_4476+1567dup | NP_001341349.1:n.4476+1563_4476+1567dup | |
| NM_001354429.2:c.4605+1563_4605+1567dup | NP_001341358.1:n.4605+1563_4605+1567dup | |
| NM_001384140.1:c.4671+1563_4671+1567dup MANE Select | NP_001371069.1:n.4671+1563_4671+1567dup |