Linked Data
dbSNP Id:
rs1293508322
gnomAD v2:
2-203421038-CTGGATCGTCTTG-C
gnomAD v4:
2-202556315-CTGGATCGTCTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556320_202556331del , CM000664.2:g.202556320_202556331del | GRCh38 |
| NC_000002.11:g.203421043_203421054del , CM000664.1:g.203421043_203421054del | GRCh37 |
| NC_000002.10:g.203129288_203129299del | NCBI36 |
| NG_009363.1:g.184994_185005del , LRG_712:g.184994_185005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2655_2666del MANE Select | ENSP00000363708.4:p.Arg886_Asp889del | |
| ENST00000638587.1:c.2586_2597del | ENSP00000491062.1:n.2586_2597del | |
| ENST00000374574.2:c.1587-3376_1587-3365del | ENSP00000363702.2:n.1587-3376_1587-3365del | |
| ENST00000374580.8:c.2655_2666del | ENSP00000363708.4:p.Arg886_Asp889del | |
| NM_001204.6:c.2655_2666del , LRG_712t1:c.2655_2666del | NP_001195.2:p.Arg886_Asp889del | |
| XM_011511687.1:c.2655_2666del | XP_011509989.1:p.Arg886_Asp889del | |
| XM_011511688.1:c.1587-3376_1587-3365del | XP_011509990.1:n.1587-3376_1587-3365del | |
| NM_001204.7:c.2655_2666del MANE Select | NP_001195.2:p.Arg886_Asp889del |