Linked Data
ClinVar Variation Id:
1343164
ClinVar RCV Id:
RCV001843765
dbSNP Id:
rs1238870745
gnomAD v3:
6-98875715-CAT-C
gnomAD v4:
6-98875715-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875717_98875718del , CM000668.2:g.98875717_98875718del | GRCh38 |
| NC_000006.11:g.99323593_99323594del , CM000668.1:g.99323593_99323594del | GRCh37 |
| NC_000006.10:g.99430314_99430315del | NCBI36 |
| NG_033903.1:g.77290_77291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1400_1401del MANE Select | ENSP00000358247.1:p.Tyr467Ter | |
| ENST00000229971.2:c.1400_1401del | ENSP00000229971.1:p.Tyr467Ter | |
| ENST00000369244.6:c.1400_1401del | ENSP00000358247.1:p.Tyr467Ter | |
| NM_001278716.1:c.1400_1401del | NP_001265645.1:p.Tyr467Ter | |
| NM_012160.4:c.1400_1401del | NP_036292.2:p.Tyr467Ter | |
| NR_103836.1:n.1445_1446del | ||
| XM_005266930.1:c.1328_1329del | XP_005266987.1:p.Tyr443Ter | |
| XM_005266930.3:c.1328_1329del | XP_005266987.1:p.Tyr443Ter | |
| XM_017010726.1:c.1400_1401del | XP_016866215.1:p.Tyr467Ter | |
| XM_017010727.2:c.1328_1329del | XP_016866216.1:p.Tyr443Ter | |
| XM_017010728.1:c.674_675del | XP_016866217.1:p.Tyr225Ter | |
| NM_001278716.2:c.1400_1401del MANE Select | NP_001265645.1:p.Tyr467Ter | |
| NR_103836.2:n.1385_1386del | ||
| NM_012160.5:c.1400_1401del | NP_036292.2:p.Tyr467Ter |