Linked Data
ClinVar Variation Id:
2413614
ClinVar RCV Id:
RCV003104410
dbSNP Id:
rs1258886618
gnomAD v2:
6-99322166-GCT-G
gnomAD v3:
6-98874290-GCT-G
gnomAD v4:
6-98874290-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874293_98874294del , CM000668.2:g.98874293_98874294del | GRCh38 |
| NC_000006.11:g.99322169_99322170del , CM000668.1:g.99322169_99322170del | GRCh37 |
| NC_000006.10:g.99428890_99428891del | NCBI36 |
| NG_033903.1:g.78715_78716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1852_1853del MANE Select | ENSP00000358247.1:p.Ser618LeufsTer6 | |
| ENST00000229971.2:c.1852_1853del | ENSP00000229971.1:p.Ser618LeufsTer6 | |
| ENST00000369244.6:c.1852_1853del | ENSP00000358247.1:p.Ser618LeufsTer6 | |
| NM_001278716.1:c.1852_1853del | NP_001265645.1:p.Ser618LeufsTer6 | |
| NM_012160.4:c.1852_1853del | NP_036292.2:p.Ser618LeufsTer6 | |
| NR_103836.1:n.1897_1898del | ||
| XM_005266930.1:c.1780_1781del | XP_005266987.1:p.Ser594LeufsTer6 | |
| XM_005266930.3:c.1780_1781del | XP_005266987.1:p.Ser594LeufsTer6 | |
| XM_017010726.1:c.1852_1853del | XP_016866215.1:p.Ser618LeufsTer6 | |
| XM_017010727.2:c.1780_1781del | XP_016866216.1:p.Ser594LeufsTer6 | |
| XM_017010728.1:c.1126_1127del | XP_016866217.1:p.Ser376LeufsTer6 | |
| NM_001278716.2:c.1852_1853del MANE Select | NP_001265645.1:p.Ser618LeufsTer6 | |
| NR_103836.2:n.1837_1838del | ||
| NM_012160.5:c.1852_1853del | NP_036292.2:p.Ser618LeufsTer6 |