Linked Data
dbSNP Id:
rs1554825484
gnomAD v2:
10-89720596-CATTA-C
gnomAD v3:
10-87960839-CATTA-C
gnomAD v4:
10-87960839-CATTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960845_87960848del , CM000672.2:g.87960845_87960848del | GRCh38 |
| NC_000010.10:g.89720602_89720605del , CM000672.1:g.89720602_89720605del | GRCh37 |
| NC_000010.9:g.89710582_89710585del | NCBI36 |
| NG_007466.2:g.102407_102410del , LRG_311:g.102407_102410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.895-49_895-46del | ENSP00000514759.2:n.895-49_895-46del | |
| ENST00000710265.1:c.802-49_802-46del | ENSP00000518161.1:n.802-49_802-46del | |
| ENST00000472832.3:c.802-49_802-46del | ENSP00000483066.2:n.802-49_802-46del | |
| ENST00000688158.2:n.1537-49_1537-46del | ||
| ENST00000688922.2:c.*632-49_*632-46del | ENSP00000508742.2:n.*632-49_*632-46del | |
| ENST00000700021.1:c.757-49_757-46del | ENSP00000514757.1:n.757-49_757-46del | |
| ENST00000700022.1:c.*141-49_*141-46del | ENSP00000514758.1:n.*141-49_*141-46del | |
| ENST00000700023.1:n.1960-49_1960-46del | ||
| ENST00000700024.1:n.2194-49_2194-46del | ||
| ENST00000700025.1:n.1571-49_1571-46del | ||
| ENST00000700026.1:n.439-49_439-46del | ||
| ENST00000700029.1:c.729-49_729-46del | ||
| ENST00000706954.1:c.802-49_802-46del | ENSP00000516674.1:n.802-49_802-46del | |
| ENST00000706955.1:c.*837-49_*837-46del | ENSP00000516675.1:n.*837-49_*837-46del | |
| ENST00000686459.1:c.*388-49_*388-46del | ENSP00000508909.1:n.*388-49_*388-46del | |
| ENST00000688158.1:c.*913-49_*913-46del | ENSP00000509254.1:n.*913-49_*913-46del | |
| ENST00000688308.1:c.802-49_802-46del | ENSP00000508752.1:n.802-49_802-46del | |
| ENST00000688922.1:c.723-49_723-46del | ||
| ENST00000693560.1:c.1321-49_1321-46del | ENSP00000509861.1:n.1321-49_1321-46del | |
| ENST00000371953.8:c.802-49_802-46del MANE Select | ENSP00000361021.3:n.802-49_802-46del | |
| ENST00000371953.7:c.802-49_802-46del | ENSP00000361021.3:n.802-49_802-46del | |
| ENST00000472832.2:c.229-49_229-46del | ENSP00000483066.1:n.229-49_229-46del | |
| NM_000314.5:c.802-49_802-46del | NP_000305.3:n.802-49_802-46del | |
| NM_000314.6:c.802-49_802-46del | NP_000305.3:n.802-49_802-46del | |
| NM_001304717.2:c.1321-49_1321-46del | NP_001291646.2:n.1321-49_1321-46del | |
| NM_001304718.1:c.211-49_211-46del | NP_001291647.1:n.211-49_211-46del | |
| XM_006717926.2:c.757-49_757-46del | XP_006717989.1:n.757-49_757-46del | |
| XM_011539981.1:c.802-49_802-46del | XP_011538283.1:n.802-49_802-46del | |
| XM_011539982.1:c.706-49_706-46del | XP_011538284.1:n.706-49_706-46del | |
| XR_945791.1:n.1372-49_1372-46del | ||
| NM_000314.7:c.802-49_802-46del | NP_000305.3:n.802-49_802-46del | |
| NM_001304717.5:c.1321-49_1321-46del | NP_001291646.4:n.1321-49_1321-46del | |
| NM_001304718.2:c.211-49_211-46del | NP_001291647.1:n.211-49_211-46del | |
| NM_000314.8:c.802-49_802-46del MANE Select | NP_000305.3:n.802-49_802-46del |