Linked Data
dbSNP Id:
rs780083430
gnomAD v4:
10-53806726-C-CAACTGTGA
MyVariant Identifiers:
chr10:g.55566486_55566487insAACTGTGA (hg19)
chr10:g.53806726_53806727insAACTGTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806727_53806728insACTGTGAA , CM000672.2:g.53806727_53806728insACTGTGAA | GRCh38 |
| NC_000010.10:g.55566487_55566488insACTGTGAA , CM000672.1:g.55566487_55566488insACTGTGAA | GRCh37 |
| NC_000010.9:g.55236493_55236494insACTGTGAA | NCBI36 |
| NG_009191.2:g.999565_999566insTCACAGTT | |
| NG_009191.3:g.1827456_1827457insTCACAGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642496.1:c.3934_3935insTCACAGTT | ||
| ENST00000644397.2:c.5075_5076insTCACAGTT MANE Select | ENSP00000495195.1:p.Lys1693HisfsTer3 | |
| ENST00000373965.6:c.4886_4887insTCACAGTT | ENSP00000363076.3:p.Lys1630HisfsTer3 | |
| ENST00000414778.5:c.4883_4884insTCACAGTT | ENSP00000410304.2:p.Lys1629HisfsTer3 | |
| ENST00000495484.5:c.1103_1104insTCACAGTT | ENSP00000480780.1:p.Lys369HisfsTer3 | |
| ENST00000614895.4:c.4898_4899insTCACAGTT | ENSP00000478512.1:p.Lys1634HisfsTer3 | |
| ENST00000616114.4:c.4880_4881insTCACAGTT | ENSP00000483745.1:p.Lys1628HisfsTer3 | |
| ENST00000618301.4:c.1235_1236insTCACAGTT | ENSP00000482780.1:p.Lys413HisfsTer3 | |
| ENST00000621708.4:c.4901_4902insTCACAGTT | ENSP00000484454.1:p.Lys1635HisfsTer3 | |
| NM_001142771.1:c.4901_4902insTCACAGTT | NP_001136243.1:p.Lys1635HisfsTer3 | |
| NM_001142772.1:c.4886_4887insTCACAGTT | NP_001136244.1:p.Lys1630HisfsTer3 | |
| NM_001354420.1:c.4880_4881insTCACAGTT | NP_001341349.1:p.Lys1628HisfsTer3 | |
| NM_001354429.1:c.5009_5010insTCACAGTT | NP_001341358.1:p.Lys1671HisfsTer3 | |
| XR_001747192.2:n.11367_11368insTCACAGTT | ||
| XR_001747193.2:n.11358_11359insTCACAGTT | ||
| NM_001142771.2:c.4901_4902insTCACAGTT | NP_001136243.1:p.Lys1635HisfsTer3 | |
| NM_001142772.2:c.4886_4887insTCACAGTT | NP_001136244.1:p.Lys1630HisfsTer3 | |
| NM_001354420.2:c.4880_4881insTCACAGTT | NP_001341349.1:p.Lys1628HisfsTer3 | |
| NM_001354429.2:c.5009_5010insTCACAGTT | NP_001341358.1:p.Lys1671HisfsTer3 | |
| NM_001384140.1:c.5075_5076insTCACAGTT MANE Select | NP_001371069.1:p.Lys1693HisfsTer3 |