Linked Data
ClinVar Variation Id:
2186368
ClinVar RCV Id:
RCV002623251
dbSNP Id:
rs572043266
ExAC:
22:18609159 CCA / C
gnomAD v2:
22-18609159-CCA-C
gnomAD v3:
22-18126392-CCA-C
gnomAD v4:
22-18126392-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18126395_18126396del , CM000684.2:g.18126395_18126396del | GRCh38 |
| NC_000022.10:g.18609162_18609163del , CM000684.1:g.18609162_18609163del | GRCh37 |
| NC_000022.9:g.16989162_16989163del | NCBI36 |
| NG_023429.1:g.20710_20711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330423.8:c.417_418del (TUBA8) MANE Select | ENSP00000333326.3:p.His139GlnfsTer? | |
| ENST00000416740.2:c.219_220del (TUBA8) | ENSP00000412646.2:p.His73GlnfsTer? | |
| ENST00000474897.6:c.*307_*308del | ENSP00000434235.2:n.*307_*308del | |
| ENST00000679481.1:n.786_787del (TUBA8) | ||
| ENST00000679963.1:c.219_220del (TUBA8) | ENSP00000505896.1:p.His73GlnfsTer? | |
| ENST00000680175.1:c.417_418del (TUBA8) | ENSP00000505461.1:p.His139GlnfsTer? | |
| ENST00000316027.10:c.219_220del (TUBA8) | ENSP00000318575.6:p.His73GlnfsTer? | |
| ENST00000330423.7:c.417_418del (TUBA8) | ENSP00000333326.3:p.His139GlnfsTer? | |
| ENST00000416740.1:c.489_490del (TUBA8) | ENSP00000412646.1:p.His163GlnfsTer? | |
| ENST00000474897.5:c.*215_*216del (PEX26) | ENSP00000434235.1:n.*215_*216del | |
| NM_001193414.1:c.219_220del (TUBA8) | NP_001180343.1:p.His73GlnfsTer? | |
| NM_018943.2:c.417_418del (TUBA8) | NP_061816.1:p.His139GlnfsTer? | |
| NM_018943.3:c.417_418del (TUBA8) MANE Select | NP_061816.1:p.His139GlnfsTer? | |
| NM_001193414.2:c.219_220del (TUBA8) | NP_001180343.1:p.His73GlnfsTer? |