Linked Data
dbSNP Id:
rs1751264282
gnomAD v3:
5-107945920-CCATTTTT-C
gnomAD v4:
5-107945920-CCATTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107945921_107945927del , CM000667.2:g.107945921_107945927del | GRCh38 |
| NC_000005.9:g.107281622_107281628del , CM000667.1:g.107281622_107281628del | GRCh37 |
| NC_000005.8:g.107309521_107309527del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496714.2:c.831-64748_831-64742del | ||
| ENST00000542267.7:c.1823-64748_1823-64742del MANE Select | ENSP00000437464.2:n.1823-64748_1823-64742del | |
| ENST00000359660.9:c.629-64748_629-64742del | ENSP00000352683.4:n.629-64748_629-64742del | |
| ENST00000496714.1:c.629-64748_629-64742del | ENSP00000418111.1:n.629-64748_629-64742del | |
| ENST00000542267.5:c.1823-64748_1823-64742del | ENSP00000437464.1:n.1823-64748_1823-64742del | |
| ENST00000619412.4:c.1109-64748_1109-64742del | ENSP00000481439.1:n.1109-64748_1109-64742del | |
| NM_001163315.2:c.1823-64748_1823-64742del | NP_001156787.2:n.1823-64748_1823-64742del | |
| XM_005272048.3:c.1823-64748_1823-64742del | XP_005272105.1:n.1823-64748_1823-64742del | |
| XM_005272048.4:c.1823-64748_1823-64742del | XP_005272105.1:n.1823-64748_1823-64742del | |
| NM_001163315.3:c.1823-64748_1823-64742del MANE Select | NP_001156787.2:n.1823-64748_1823-64742del |