Linked Data
dbSNP Id:
rs2106219692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539866_232539867del , CM000664.2:g.232539866_232539867del | GRCh38 |
| NC_000002.11:g.233404576_233404577del , CM000664.1:g.233404576_233404577del | GRCh37 |
| NC_000002.10:g.233112820_233112821del | NCBI36 |
| NG_012954.1:g.5140_5141del | |
| NG_012954.2:g.5175_5176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.55+64_55+65del MANE Select | ENSP00000498757.1:n.55+64_55+65del | |
| ENST00000389492.3:c.55+64_55+65del | ENSP00000374143.3:n.55+64_55+65del | |
| ENST00000389494.7:c.55+64_55+65del | ENSP00000374145.3:n.55+64_55+65del | |
| ENST00000485094.1:n.76+64_76+65del | ||
| NM_005199.4:c.55+64_55+65del | NP_005190.4:n.55+64_55+65del | |
| NM_005199.5:c.55+64_55+65del MANE Select | NP_005190.4:n.55+64_55+65del |