Linked Data
dbSNP Id:
rs566719843
gnomAD v2:
5-94852516-TA-T
gnomAD v3:
5-95516812-TA-T
gnomAD v4:
5-95516812-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516813del , CM000667.2:g.95516813del | GRCh38 |
| NC_000005.9:g.94852517del , CM000667.1:g.94852517del | GRCh37 |
| NC_000005.8:g.94878273del | NCBI36 |
| NG_023414.1:g.43193del , LRG_173:g.43193del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2829del | ||
| ENST00000513232.2:c.*1254del | ENSP00000422749.2:n.*1254del | |
| ENST00000698450.1:n.1821-63del | ||
| ENST00000698451.1:n.1959del | ||
| ENST00000698452.1:n.3030del | ||
| ENST00000698453.1:c.2441+98del | ENSP00000513735.1:n.2441+98del | |
| ENST00000698454.1:c.2428-63del | ENSP00000513736.1:n.2428-63del | |
| ENST00000698455.1:c.*2515del | ENSP00000513737.1:n.*2515del | |
| ENST00000698456.1:c.*1295-63del | ENSP00000513738.1:n.*1295-63del | |
| ENST00000698457.1:c.2227-63del | ENSP00000513739.1:n.2227-63del | |
| ENST00000698458.1:c.2477+98del | ENSP00000513740.1:n.2477+98del | |
| ENST00000698459.1:c.2437-63del | ENSP00000513741.1:n.2437-63del | |
| ENST00000698460.1:c.*278+103del | ENSP00000513742.1:n.*278+103del | |
| ENST00000698461.1:n.2829del | ||
| ENST00000698462.1:n.2812-63del | ||
| ENST00000698468.1:n.3030del | ||
| ENST00000698469.1:c.*1886del | ENSP00000513743.1:n.*1886del | |
| ENST00000698470.1:c.*381del | ENSP00000513744.1:n.*381del | |
| ENST00000698471.1:n.2829del | ||
| ENST00000698472.1:c.*1254del | ENSP00000513745.1:n.*1254del | |
| ENST00000698473.1:n.2829del | ||
| ENST00000698474.1:n.2829del | ||
| ENST00000698475.1:n.2914del | ||
| ENST00000698476.1:c.2437-63del | ENSP00000513746.1:n.2437-63del | |
| ENST00000698477.1:c.2441+98del | ENSP00000513747.1:n.2441+98del | |
| ENST00000698478.1:n.2829del | ||
| ENST00000698479.1:c.2437-63del | ENSP00000513748.1:n.2437-63del | |
| ENST00000698480.1:c.2436+103del | ENSP00000513749.1:n.2436+103del | |
| ENST00000698481.1:c.2436+103del | ENSP00000513750.1:n.2436+103del | |
| ENST00000698482.1:n.2727-63del | ||
| ENST00000698483.1:n.2829del | ||
| ENST00000698484.1:c.2437-63del | ENSP00000513751.1:n.2437-63del | |
| ENST00000698485.1:c.2436+103del | ENSP00000513752.1:n.2436+103del | |
| ENST00000698486.1:n.2829del | ||
| ENST00000698487.1:c.2437-63del | ENSP00000513753.1:n.2437-63del | |
| ENST00000698488.1:c.2259+103del | ENSP00000513754.1:n.2259+103del | |
| ENST00000698489.1:n.6614del | ||
| ENST00000698490.1:c.2437-63del | ENSP00000513755.1:n.2437-63del | |
| ENST00000698492.1:c.*1152-63del | ENSP00000513756.1:n.*1152-63del | |
| ENST00000698493.1:n.2727-63del | ||
| ENST00000698494.1:c.*269del | ENSP00000513757.1:n.*269del | |
| ENST00000358746.7:c.2437-63del MANE Select | ENSP00000351596.3:n.2437-63del | |
| ENST00000649566.1:c.2437-63del | ENSP00000497948.1:n.2437-63del | |
| ENST00000358746.6:c.2437-63del | ENSP00000351596.2:n.2437-63del | |
| ENST00000507805.5:n.561del | ||
| NM_014639.3:c.2437-63del , LRG_173t1:c.2437-63del | NP_055454.1:n.2437-63del | |
| XR_948312.1:n.2706-63del | ||
| XR_001742370.2:n.2709-63del | ||
| NM_014639.4:c.2437-63del MANE Select | NP_055454.1:n.2437-63del |