Linked Data
dbSNP Id:
rs1206455800
gnomAD v2:
1-110607169-TA-T
gnomAD v3:
1-110064547-TA-T
gnomAD v4:
1-110064547-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110064548del , CM000663.2:g.110064548del | GRCh38 |
| NC_000001.10:g.110607170del , CM000663.1:g.110607170del | GRCh37 |
| NC_000001.9:g.110408693del | NCBI36 |
| NG_012039.1:g.11153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647563.2:c.594+39del (ALX3) MANE Select | ENSP00000497310.1:n.594+39del | |
| ENST00000649954.1:c.165+39del (ALX3) | ENSP00000497035.1:n.165+39del | |
| ENST00000369792.4:c.594+39del (ALX3) | ENSP00000358807.3:n.594+39del | |
| ENST00000473429.5:n.4214-7907del (STRIP1) | ||
| NM_006492.2:c.594+39del (ALX3) | NP_006483.2:n.594+39del | |
| NM_006492.3:c.594+39del (ALX3) MANE Select | NP_006483.2:n.594+39del |