Linked Data
ClinVar Variation Id:
407342
ClinVar RCV Id:
RCV002230782
dbSNP Id:
rs1060501487
MyVariant Identifiers:
chr22:g.32215186del (hg19)
chr22:g.32215185del (hg19)
chr22:g.31819200del (hg38)
chr22:g.31819199del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31819200del , CM000684.2:g.31819200del | GRCh38 |
| NC_000022.10:g.32215186del , CM000684.1:g.32215186del | GRCh37 |
| NC_000022.9:g.30545186del | NCBI36 |
| NG_034067.1:g.70250del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.1845del | ENSP00000371546.4:p.Arg615SerfsTer? | |
| ENST00000400246.7:c.1845del | ENSP00000383105.3:p.Arg615SerfsTer11 | |
| ENST00000400248.7:c.1845del | ENSP00000383107.1:p.Arg615SerfsTer? | |
| ENST00000400249.7:c.1845del | ENSP00000383108.3:p.Arg615SerfsTer? | |
| ENST00000433147.2:c.1761del | ENSP00000410544.2:p.Arg587SerfsTer? | |
| ENST00000448753.6:c.135del | ENSP00000402173.1:p.Arg45SerfsTer11 | |
| ENST00000535622.6:c.1845del | ENSP00000440210.1:p.Arg615SerfsTer11 | |
| ENST00000642551.1:n.1581del | ||
| ENST00000642684.1:c.*1538del | ENSP00000494554.1:n.*1538del | |
| ENST00000642696.1:c.1845del | ENSP00000495917.1:p.Arg615SerfsTer? | |
| ENST00000642771.1:c.1845del | ENSP00000496278.1:p.Arg615SerfsTer12 | |
| ENST00000642974.1:c.1845del | ENSP00000496395.1:p.Arg615SerfsTer? | |
| ENST00000643166.1:n.1932del | ||
| ENST00000643395.1:c.1845del | ENSP00000496630.1:p.Arg615SerfsTer11 | |
| ENST00000643751.2:c.1845del | ENSP00000495496.1:p.Arg615SerfsTer? | |
| ENST00000644162.1:c.*473del | ENSP00000495371.1:n.*473del | |
| ENST00000644331.1:c.1845del | ENSP00000494406.1:p.Arg615SerfsTer? | |
| ENST00000645407.1:c.1869del | ENSP00000496252.1:p.Arg623SerfsTer? | |
| ENST00000645494.1:c.1845del | ENSP00000495338.1:p.Arg615SerfsTer12 | |
| ENST00000645560.1:c.1845del | ENSP00000495544.1:p.Arg615SerfsTer11 | |
| ENST00000645564.1:c.1845del | ENSP00000494484.1:p.Arg615SerfsTer? | |
| ENST00000645693.1:c.1845del | ENSP00000496281.1:p.Arg615SerfsTer11 | |
| ENST00000645711.1:c.1845del | ENSP00000493489.1:p.Arg615SerfsTer? | |
| ENST00000645755.1:c.*839del | ENSP00000495873.1:n.*839del | |
| ENST00000645893.1:n.702del | ||
| ENST00000646465.1:c.1845del | ENSP00000495655.1:p.Arg615SerfsTer11 | |
| ENST00000646515.1:c.1845del | ENSP00000494700.1:p.Arg615SerfsTer? | |
| ENST00000646701.1:c.1761del | ENSP00000496158.1:p.Arg587SerfsTer? | |
| ENST00000646969.1:c.1845del | ENSP00000496724.1:p.Arg615SerfsTer11 | |
| ENST00000646998.1:c.1845del | ENSP00000494662.1:p.Arg615SerfsTer? | |
| ENST00000647289.1:n.1476del | ||
| ENST00000647343.1:c.1761del | ENSP00000494879.1:p.Arg587SerfsTer? | |
| ENST00000651528.2:c.1845del MANE Select | ENSP00000498382.1:p.Arg615SerfsTer? | |
| ENST00000382111.6:c.1845del | ENSP00000371545.2:p.Arg615SerfsTer? | |
| ENST00000382112.7:c.1845del | ENSP00000371546.3:p.Arg615SerfsTer? | |
| ENST00000400246.5:c.1845del | ENSP00000383105.2:p.Arg615SerfsTer? | |
| ENST00000400248.6:c.1845del | ENSP00000383107.1:p.Arg615SerfsTer? | |
| ENST00000400249.6:c.1845del | ENSP00000383108.2:p.Arg615SerfsTer? | |
| ENST00000433147.1:c.37del | ||
| ENST00000448753.5:c.135del | ENSP00000402173.1:p.Arg45SerfsTer11 | |
| ENST00000535622.5:c.1845del | ENSP00000440210.1:p.Arg615SerfsTer11 | |
| NM_001136029.2:c.1845del | NP_001129501.1:p.Arg615SerfsTer? | |
| NM_001242896.1:c.1845del | NP_001229825.1:p.Arg615SerfsTer? | |
| NM_001242897.1:c.1845del | NP_001229826.1:p.Arg615SerfsTer11 | |
| NM_014662.4:c.1845del | NP_055477.1:p.Arg615SerfsTer? | |
| NR_110988.1:n.2047del | ||
| XM_005261862.1:c.1845del | XP_005261919.1:p.Arg615SerfsTer? | |
| XM_011530557.1:c.1845del | XP_011528859.1:p.Arg615SerfsTer? | |
| XM_011530558.1:c.1845del | XP_011528860.1:p.Arg615SerfsTer? | |
| XM_011530559.1:c.1845del | XP_011528861.1:p.Arg615SerfsTer? | |
| XM_011530560.1:c.1845del | XP_011528862.1:p.Arg615SerfsTer11 | |
| XM_011530561.1:c.1845del | XP_011528863.1:p.Arg615SerfsTer11 | |
| XM_011530562.1:c.1845del | XP_011528864.1:p.Arg615SerfsTer? | |
| XM_011530563.1:c.1845del | XP_011528865.1:p.Arg615SerfsTer11 | |
| XM_011530564.1:c.1845del | XP_011528866.1:p.Arg615SerfsTer? | |
| XM_011530565.1:c.1845del | XP_011528867.1:p.Arg615SerfsTer? | |
| XM_011530566.1:c.1845del | XP_011528868.1:p.Arg615SerfsTer? | |
| XM_011530567.1:c.1845del | XP_011528869.1:p.Arg615SerfsTer? | |
| XM_011530568.1:c.1845del | XP_011528870.1:p.Arg615SerfsTer? | |
| XR_937972.1:n.2042del | ||
| XR_937973.1:n.2042del | ||
| NM_001136029.3:c.1845del | NP_001129501.1:p.Arg615SerfsTer? | |
| NM_001242896.2:c.1845del | NP_001229825.1:p.Arg615SerfsTer? | |
| NM_001363852.1:c.1845del | NP_001350781.1:p.Arg615SerfsTer? | |
| NM_001363854.1:c.1845del | NP_001350783.1:p.Arg615SerfsTer11 | |
| NM_001364318.1:c.1845del | NP_001351247.1:p.Arg615SerfsTer? | |
| NM_001364319.1:c.1845del | NP_001351248.1:p.Arg615SerfsTer11 | |
| NM_001364320.1:c.1845del | NP_001351249.1:p.Arg615SerfsTer? | |
| NM_014662.5:c.1845del | NP_055477.1:p.Arg615SerfsTer? | |
| NR_110988.2:n.2051del | ||
| NR_146296.1:n.1951del | ||
| NR_157125.1:n.1930del | ||
| NR_157126.1:n.1934del | ||
| NR_157128.1:n.2051del | ||
| XM_011530557.2:c.1845del | XP_011528859.1:p.Arg615SerfsTer? | |
| XM_011530559.2:c.1845del | XP_011528861.1:p.Arg615SerfsTer? | |
| XM_011530561.2:c.1845del | XP_011528863.1:p.Arg615SerfsTer11 | |
| XM_011530562.2:c.1845del | XP_011528864.1:p.Arg615SerfsTer? | |
| XM_011530563.2:c.1845del | XP_011528865.1:p.Arg615SerfsTer11 | |
| XM_011530565.2:c.1845del | XP_011528867.1:p.Arg615SerfsTer? | |
| XM_011530568.2:c.1845del | XP_011528870.1:p.Arg615SerfsTer? | |
| XM_017029113.1:c.1845del | XP_016884602.1:p.Arg615SerfsTer? | |
| XM_017029114.1:c.1845del | XP_016884603.1:p.Arg615SerfsTer? | |
| XM_017029115.1:c.1845del | XP_016884604.1:p.Arg615SerfsTer11 | |
| XR_001755389.1:n.2054del | ||
| XR_001755390.1:n.2054del | ||
| XR_937973.2:n.2054del | ||
| NM_001242896.3:c.1845del MANE Select | NP_001229825.1:p.Arg615SerfsTer? | |
| NM_001242897.2:c.1845del | NP_001229826.1:p.Arg615SerfsTer11 | |
| NM_001363852.2:c.1845del | NP_001350781.1:p.Arg615SerfsTer? | |
| NM_001363854.2:c.1845del | NP_001350783.1:p.Arg615SerfsTer11 | |
| NM_001369901.1:c.1761del | NP_001356830.1:p.Arg587SerfsTer? | |
| NM_001369902.1:c.1761del | NP_001356831.1:p.Arg587SerfsTer? | |
| NM_001369903.1:c.1845del | NP_001356832.1:p.Arg615SerfsTer? | |
| NR_146296.2:n.1934del | ||
| NM_001136029.4:c.1845del | NP_001129501.1:p.Arg615SerfsTer? | |
| NM_001364318.2:c.1845del | NP_001351247.1:p.Arg615SerfsTer? | |
| NM_001364319.2:c.1845del | NP_001351248.1:p.Arg615SerfsTer11 | |
| NM_001364320.2:c.1845del | NP_001351249.1:p.Arg615SerfsTer? | |
| NM_014662.6:c.1845del | NP_055477.1:p.Arg615SerfsTer? | |
| NR_157125.2:n.1930del | ||
| NR_157126.2:n.1934del |