Linked Data
ClinVar Variation Id:
1544785
ClinVar RCV Id:
RCV002165304
dbSNP Id:
rs2102563658
gnomAD v4:
1-212883447-CTGCTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883449_212883454del , CM000663.2:g.212883449_212883454del | GRCh38 |
| NC_000001.10:g.213056791_213056796del , CM000663.1:g.213056791_213056796del | GRCh37 |
| NC_000001.9:g.211123414_211123419del | NCBI36 |
| NG_028131.1:g.30195_30200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1092+11_1092+16del MANE Select | ENSP00000355938.4:n.1092+11_1092+16del | |
| ENST00000366971.8:c.1092+11_1092+16del | ENSP00000355938.4:n.1092+11_1092+16del | |
| ENST00000419102.1:c.488+11_488+16del | ||
| ENST00000474693.1:n.317+11_317+16del | ||
| ENST00000483790.1:n.30+11_30+16del | ||
| NM_014053.3:c.1092+11_1092+16del | NP_054772.1:n.1092+11_1092+16del | |
| XM_011509446.1:c.1092+11_1092+16del | XP_011507748.1:n.1092+11_1092+16del | |
| XR_247024.1:n.1266+11_1266+16del | ||
| XR_426771.1:n.1393+11_1393+16del | ||
| XM_011509446.3:c.1092+11_1092+16del | XP_011507748.1:n.1092+11_1092+16del | |
| XR_247024.3:n.1266+11_1266+16del | ||
| NM_014053.4:c.1092+11_1092+16del MANE Select | NP_054772.1:n.1092+11_1092+16del |