ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352250_45352257del , CM000681.2:g.45352250_45352257del | GRCh38 |
| NC_000019.9:g.45855508_45855515del , CM000681.1:g.45855508_45855515del | GRCh37 |
| NC_000019.8:g.50547348_50547355del | NCBI36 |
| NG_007067.2:g.23334_23341del , LRG_461:g.23334_23341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2145_2152del | ENSP00000375808.4:p.Ala717LeufsTer? | |
| ENST00000682414.1:c.2145_2152del | ENSP00000507019.1:p.Ala717LeufsTer? | |
| ENST00000682508.1:n.2174_2181del | ||
| ENST00000684218.1:c.*1403_*1410del | ENSP00000507804.1:n.*1403_*1410del | |
| ENST00000684264.1:n.1701_1708del | ||
| ENST00000684407.1:c.2022_2029del | ENSP00000507775.1:p.Ala676LeufsTer? | |
| ENST00000684458.1:c.*631_*638del | ENSP00000508260.1:n.*631_*638del | |
| ENST00000684468.1:n.1857_1864del | ||
| ENST00000391945.10:c.2145_2152del MANE Select | ENSP00000375809.4:p.Ala717LeufsTer? | |
| ENST00000646507.1:n.2242_2249del | ||
| ENST00000391941.6:c.2073_2080del | ENSP00000375805.2:p.Ala693LeufsTer? | |
| ENST00000391942.6:n.1316_1323del | ||
| ENST00000391944.7:c.1911_1918del | ENSP00000375808.3:p.Ala639LeufsTer? | |
| ENST00000391945.8:c.2145_2152del | ENSP00000375809.3:p.Ala717LeufsTer? | |
| ENST00000588652.5:n.2233_2240del | ||
| NM_000400.3:c.2145_2152del , LRG_461t1:c.2145_2152del | NP_000391.1:p.Ala717LeufsTer? | |
| XM_011526611.1:c.2067_2074del | XP_011524913.1:p.Ala691LeufsTer? | |
| XM_011526611.2:c.2067_2074del | XP_011524913.1:p.Ala691LeufsTer? | |
| XM_017026467.1:c.2022_2029del | XP_016881956.1:p.Ala676LeufsTer? | |
| XR_001753633.2:n.2192_2199del | ||
| XR_001753634.2:n.2128_2135del | ||
| NM_000400.4:c.2145_2152del MANE Select | NP_000391.1:p.Ala717LeufsTer? |