Linked Data
ClinVar Variation Id:
420056
dbSNP Id:
rs1064794262
gnomAD v2:
19-13414644-CCT-C
gnomAD v4:
19-13303830-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13303831_13303832del , CM000681.2:g.13303831_13303832del | GRCh38 |
| NC_000019.9:g.13414645_13414646del , CM000681.1:g.13414645_13414646del | GRCh37 |
| NC_000019.8:g.13275645_13275646del | NCBI36 |
| NG_011569.1:g.207629_207630del , LRG_7:g.207629_207630del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.2039_2040del MANE Select | ENSP00000353362.5:p.Gln680ArgfsTer? | |
| ENST00000573710.7:c.2045_2046del | ENSP00000460092.3:p.Gln682ArgfsTer? | |
| ENST00000635727.1:c.2042_2043del | ENSP00000490001.1:p.Gln681ArgfsTer? | |
| ENST00000635895.1:c.2042_2043del | ENSP00000490323.1:p.Gln681ArgfsTer? | |
| ENST00000636012.1:c.2042_2043del | ENSP00000490223.1:p.Gln681ArgfsTer? | |
| ENST00000636389.1:c.2042_2043del | ENSP00000489992.1:p.Gln681ArgfsTer? | |
| ENST00000636549.1:c.2042_2043del | ENSP00000490578.1:p.Gln681ArgfsTer? | |
| ENST00000637276.1:c.2042_2043del | ENSP00000489777.1:p.Gln681ArgfsTer? | |
| ENST00000637432.1:c.2042_2043del | ENSP00000490617.1:p.Gln681ArgfsTer? | |
| ENST00000637736.1:c.1901_1902del | ENSP00000489861.1:p.Gln634ArgfsTer? | |
| ENST00000637769.1:c.2042_2043del | ENSP00000489778.1:p.Gln681ArgfsTer? | |
| ENST00000637927.1:c.2045_2046del | ENSP00000489715.1:p.Gln682ArgfsTer? | |
| ENST00000638009.2:c.2042_2043del | ENSP00000489913.1:p.Gln681ArgfsTer? | |
| ENST00000638029.1:c.2042_2043del | ENSP00000489829.1:p.Gln681ArgfsTer? | |
| ENST00000664864.1:c.2237_2238del | ENSP00000499449.1:p.Gln746ArgfsTer? | |
| ENST00000360228.9:c.2039_2040del | ENSP00000353362.5:p.Gln680ArgfsTer? | |
| ENST00000573710.6:c.2042_2043del | ENSP00000460092.2:p.Gln681ArgfsTer? | |
| ENST00000614285.4:c.2042_2043del | ENSP00000479983.1:p.Gln681ArgfsTer? | |
| NM_000068.3:c.2042_2043del | NP_000059.3:p.Gln681ArgfsTer? | |
| NM_001127221.1:c.2042_2043del , LRG_7t1:c.2042_2043del | NP_001120693.1:p.Gln681ArgfsTer? | |
| NM_001127222.1:c.2039_2040del | NP_001120694.1:p.Gln680ArgfsTer? | |
| NM_001174080.1:c.2042_2043del | NP_001167551.1:p.Gln681ArgfsTer? | |
| NM_023035.2:c.2042_2043del | NP_075461.2:p.Gln681ArgfsTer? | |
| NM_000068.4:c.2042_2043del | NP_000059.3:p.Gln681ArgfsTer? | |
| NM_001127222.2:c.2039_2040del MANE Select | NP_001120694.1:p.Gln680ArgfsTer? | |
| NM_001174080.2:c.2042_2043del | NP_001167551.1:p.Gln681ArgfsTer? | |
| NM_023035.3:c.2042_2043del | NP_075461.2:p.Gln681ArgfsTer? | |
| NM_001127221.2:c.2042_2043del | NP_001120693.1:p.Gln681ArgfsTer? |