Linked Data
ClinVar Variation Id:
371332
ClinVar RCV Id:
RCV000410838
dbSNP Id:
rs1057517187
gnomAD v2:
14-88459304-TGCCGCTCACCCCGCC-T
gnomAD v4:
14-87992960-TGCCGCTCACCCCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87992967_87992981del , CM000676.2:g.87992967_87992981del | GRCh38 |
| NC_000014.8:g.88459311_88459325del , CM000676.1:g.88459311_88459325del | GRCh37 |
| NC_000014.7:g.87529064_87529078del | NCBI36 |
| NG_011853.2:g.5589_5603del | |
| NG_011853.3:g.5589_5603del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.190_195+9del | ||
| ENST00000261304.6:c.190_195+9del | ||
| ENST00000393568.8:c.190_195+9del | ||
| ENST00000393569.6:c.117+408_117+422del | ENSP00000377199.2:n.117+408_117+422del | |
| ENST00000474294.6:n.180_185+9del | ||
| ENST00000554372.5:c.190_195+9del | ||
| ENST00000556879.5:c.148_153+9del | ||
| ENST00000557316.5:c.190_195+9del | ||
| ENST00000622264.4:c.180_185+9del | ||
| NM_000153.3:c.190_195+9del | ||
| NM_001201401.1:c.190_195+9del | ||
| NM_001201402.1:c.117+408_117+422del | NP_001188331.1:n.117+408_117+422del | |
| NM_000153.4:c.190_195+9del | ||
| NM_001201401.2:c.190_195+9del | ||
| NM_001201402.2:c.117+408_117+422del | NP_001188331.1:n.117+408_117+422del |