Linked Data
ClinVar Variation Id:
418370
ClinVar RCV Id:
RCV003470527
dbSNP Id:
rs1064793210
gnomAD v3:
8-89984550-CA-C
gnomAD v4:
8-89984550-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89984551del , CM000670.2:g.89984551del | GRCh38 |
| NC_000008.10:g.90996779del , CM000670.1:g.90996779del | GRCh37 |
| NC_000008.9:g.91065955del | NCBI36 |
| NG_008860.1:g.5121del , LRG_158:g.5121del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.115del | ||
| ENST00000523444.2:c.-286del | ENSP00000428252.2:n.-286del | |
| ENST00000697292.1:c.11del | ENSP00000513229.1:p.Leu4ArgfsTer16 | |
| ENST00000697293.1:c.11del | ENSP00000513230.1:p.Leu4ArgfsTer16 | |
| ENST00000697294.1:c.11del | ENSP00000513231.1:p.Leu4ArgfsTer16 | |
| ENST00000697295.1:c.11del | ENSP00000513232.1:p.Leu4ArgfsTer15 | |
| ENST00000697296.1:c.11del | ENSP00000513233.1:p.Leu4ArgfsTer16 | |
| ENST00000697297.1:n.117del | ||
| ENST00000697298.1:c.-469del | ENSP00000513234.1:n.-469del | |
| ENST00000697299.1:c.-102del | ENSP00000513235.1:n.-102del | |
| ENST00000697300.1:c.-286del | ENSP00000513236.1:n.-286del | |
| ENST00000697301.1:c.-286del | ENSP00000513237.1:n.-286del | |
| ENST00000697302.1:c.11del | ENSP00000513238.1:p.Leu4ArgfsTer16 | |
| ENST00000697303.1:c.11del | ENSP00000513239.1:p.Leu4ArgfsTer16 | |
| ENST00000697304.1:c.11del | ENSP00000513240.1:p.Leu4ArgfsTer16 | |
| ENST00000697306.1:c.11del | ENSP00000513241.1:p.Leu4ArgfsTer16 | |
| ENST00000697307.1:c.11del | ENSP00000513242.1:p.Leu4ArgfsTer16 | |
| ENST00000697308.1:c.11del | ENSP00000513243.1:p.Leu4ArgfsTer16 | |
| ENST00000697309.1:c.11del | ENSP00000513244.1:p.Leu4ArgfsTer16 | |
| ENST00000697310.1:c.11del | ENSP00000513245.1:p.Leu4ArgfsTer16 | |
| ENST00000697311.1:c.11del | ENSP00000513246.1:p.Leu4ArgfsTer16 | |
| ENST00000697312.1:c.11del | ENSP00000513247.1:p.Leu4ArgfsTer16 | |
| ENST00000697313.1:n.123del | ||
| ENST00000697314.1:n.123del | ||
| ENST00000697315.1:c.11del | ENSP00000513248.1:p.Leu4ArgfsTer16 | |
| ENST00000697316.1:n.132del | ||
| ENST00000697317.1:n.121del | ||
| ENST00000697318.1:n.123del | ||
| ENST00000265433.8:c.11del MANE Select | ENSP00000265433.4:p.Leu4ArgfsTer16 | |
| ENST00000265433.7:c.11del | ENSP00000265433.3:p.Leu4ArgfsTer16 | |
| ENST00000396252.6:c.11del | ENSP00000379551.2:p.Leu4ArgfsTer16 | |
| ENST00000494804.1:n.115del | ||
| ENST00000519426.5:c.11del | ENSP00000430983.1:p.Leu4ArgfsTer16 | |
| ENST00000523444.1:c.11del | ENSP00000428252.1:p.Leu4ArgfsTer16 | |
| NM_001024688.2:c.-286del | NP_001019859.1:n.-286del | |
| NM_002485.4:c.11del , LRG_158t1:c.11del | NP_002476.2:p.Leu4ArgfsTer16 | |
| XM_011517046.1:c.11del | XP_011515348.1:p.Leu4ArgfsTer16 | |
| XR_928335.1:n.148del | ||
| XM_017013460.1:c.-1009del | XP_016868949.1:n.-1009del | |
| XM_017013462.2:c.-815del | XP_016868951.1:n.-815del | |
| XM_024447165.1:c.-959del | XP_024302933.1:n.-959del | |
| NM_002485.5:c.11del MANE Select | NP_002476.2:p.Leu4ArgfsTer16 | |
| NM_001024688.3:c.-286del | NP_001019859.1:n.-286del |