Linked Data
ClinVar Variation Id:
3076015
ClinVar RCV Id:
RCV004018333
dbSNP Id:
rs1308270290
gnomAD v2:
7-150645527-CTCA-C
gnomAD v3:
7-150948439-CTCA-C
gnomAD v4:
7-150948439-CTCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948440_150948442del , CM000669.2:g.150948440_150948442del | GRCh38 |
| NC_000007.13:g.150645528_150645530del , CM000669.1:g.150645528_150645530del | GRCh37 |
| NC_000007.12:g.150276461_150276463del | NCBI36 |
| NG_008916.1:g.34485_34487del , LRG_288:g.34485_34487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3525+2_3525+4del | ||
| ENST00000262186.10:c.2692+2_2692+4del MANE Select | ENSP00000262186.5:n.2692+2_2692+4del | |
| ENST00000330883.9:c.1672+2_1672+4del | ENSP00000328531.4:n.1672+2_1672+4del | |
| ENST00000262186.9:c.2692+2_2692+4del | ENSP00000262186.5:n.2692+2_2692+4del | |
| ENST00000330883.8:c.1672+2_1672+4del | ENSP00000328531.4:n.1672+2_1672+4del | |
| NM_000238.3:c.2692+2_2692+4del , LRG_288t1:c.2692+2_2692+4del | NP_000229.1:n.2692+2_2692+4del | |
| NM_172057.2:c.1672+2_1672+4del , LRG_288t3:c.1672+2_1672+4del | NP_742054.1:n.1672+2_1672+4del | |
| XM_011516185.1:c.2392+2_2392+4del | XP_011514487.1:n.2392+2_2392+4del | |
| XM_011516186.1:c.2692+2_2692+4del | XP_011514488.1:n.2692+2_2692+4del | |
| XM_011516185.2:c.2392+2_2392+4del | XP_011514487.1:n.2392+2_2392+4del | |
| XM_011516186.3:c.2692+2_2692+4del | XP_011514488.1:n.2692+2_2692+4del | |
| XM_017012195.1:c.2542+2_2542+4del | XP_016867684.1:n.2542+2_2542+4del | |
| XM_017012196.1:c.2515+2_2515+4del | XP_016867685.1:n.2515+2_2515+4del | |
| NM_000238.4:c.2692+2_2692+4del MANE Select | NP_000229.1:n.2692+2_2692+4del | |
| NM_172057.3:c.1672+2_1672+4del | NP_742054.1:n.1672+2_1672+4del |