Linked Data
ClinVar Variation Id:
2062071
ClinVar RCV Id:
RCV002953158
dbSNP Id:
rs1593456172
gnomAD v3:
13-48380091-TTTTTAC-T
gnomAD v4:
13-48380091-TTTTTAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380097_48380102del , CM000675.2:g.48380097_48380102del | GRCh38 |
| NC_000013.10:g.48954233_48954238del , CM000675.1:g.48954233_48954238del | GRCh37 |
| NC_000013.9:g.47852234_47852239del | NCBI36 |
| NG_009009.1:g.81351_81356del , LRG_517:g.81351_81356del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1421+13_1421+18del MANE Select | ENSP00000267163.4:n.1421+13_1421+18del | |
| ENST00000650461.1:c.1421+13_1421+18del | ENSP00000497193.1:n.1421+13_1421+18del | |
| ENST00000267163.4:c.1421+13_1421+18del | ENSP00000267163.4:n.1421+13_1421+18del | |
| NM_000321.2:c.1421+13_1421+18del , LRG_517t1:c.1421+13_1421+18del | NP_000312.2:n.1421+13_1421+18del | |
| XM_011535171.1:c.1160+13_1160+18del | XP_011533473.1:n.1160+13_1160+18del | |
| XM_011535171.2:c.1160+13_1160+18del | XP_011533473.1:n.1160+13_1160+18del | |
| NM_000321.3:c.1421+13_1421+18del MANE Select | NP_000312.2:n.1421+13_1421+18del |