Linked Data
dbSNP Id:
rs759549285
gnomAD v2:
8-86268397-TA-T
gnomAD v3:
8-85356168-TA-T
gnomAD v4:
8-85356168-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85356172del , CM000670.2:g.85356172del | GRCh38 |
| NC_000008.10:g.86268401del , CM000670.1:g.86268401del | GRCh37 |
| NC_000008.9:g.86455653del | NCBI36 |
| NG_016221.1:g.26945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523022.6:c.-24-14510del MANE Select | ENSP00000429798.1:n.-24-14510del | |
| ENST00000517429.5:c.-24-14510del | ENSP00000430710.1:n.-24-14510del | |
| ENST00000517590.5:c.-101-13344del | ENSP00000429843.1:n.-101-13344del | |
| ENST00000518341.5:n.69-14510del | ||
| ENST00000519129.5:c.-356-4385del | ENSP00000429688.1:n.-356-4385del | |
| ENST00000519991.5:c.-46-14510del | ENSP00000430543.1:n.-46-14510del | |
| ENST00000520093.5:n.69-14510del | ||
| ENST00000520663.5:c.-123-13344del | ENSP00000430571.1:n.-123-13344del | |
| ENST00000520990.5:n.69-13344del | ||
| ENST00000521846.5:c.-155-4385del | ENSP00000430471.1:n.-155-4385del | |
| ENST00000522579.5:c.-99-6284del | ENSP00000427852.1:n.-99-6284del | |
| ENST00000522662.5:c.-79-14361del | ENSP00000430372.1:n.-79-14361del | |
| ENST00000522814.5:c.-105-14335del | ENSP00000430737.1:n.-105-14335del | |
| ENST00000523022.5:c.-24-14510del | ENSP00000429798.1:n.-24-14510del | |
| ENST00000523858.5:c.-153-4385del | ENSP00000430975.1:n.-153-4385del | |
| ENST00000523953.5:c.-78-4385del | ENSP00000430656.1:n.-78-4385del | |
| ENST00000524324.5:c.-24-14510del | ENSP00000428923.1:n.-24-14510del | |
| ENST00000626824.1:c.-100-4385del | ENSP00000486171.1:n.-100-4385del | |
| NM_001128829.3:c.-99-6284del | NP_001122301.1:n.-99-6284del | |
| NM_001128830.3:c.-101-13344del | NP_001122302.1:n.-101-13344del | |
| NM_001128831.3:c.-24-14510del | NP_001122303.1:n.-24-14510del | |
| NM_001291967.1:c.-24-14510del | NP_001278896.1:n.-24-14510del | |
| NM_001291968.1:c.-46-14510del | NP_001278897.1:n.-46-14510del | |
| NM_001738.4:c.-78-4385del | NP_001729.1:n.-78-4385del | |
| XM_011517584.1:c.-155-4385del | XP_011515886.1:n.-155-4385del | |
| NM_001128829.4:c.-99-6284del | NP_001122301.1:n.-99-6284del | |
| NM_001128830.4:c.-101-13344del | NP_001122302.1:n.-101-13344del | |
| NM_001128831.4:c.-24-14510del MANE Select | NP_001122303.1:n.-24-14510del | |
| NM_001291967.2:c.-24-14510del | NP_001278896.1:n.-24-14510del | |
| NM_001291968.2:c.-46-14510del | NP_001278897.1:n.-46-14510del | |
| NM_001738.5:c.-78-4385del | NP_001729.1:n.-78-4385del |