Linked Data
ClinVar Variation Id:
545774
dbSNP Id:
rs750375741
ExAC:
8:90994978 AAC / A
gnomAD v2:
8-90994978-AAC-A
gnomAD v4:
8-89982750-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89982754_89982755del , CM000670.2:g.89982754_89982755del | GRCh38 |
| NC_000008.10:g.90994982_90994983del , CM000670.1:g.90994982_90994983del | GRCh37 |
| NC_000008.9:g.91064158_91064159del | NCBI36 |
| NG_008860.1:g.6920_6921del , LRG_158:g.6920_6921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.245_246del | ||
| ENST00000517337.2:c.-156_-155del | ENSP00000429971.2:n.-156_-155del | |
| ENST00000523444.2:c.-156_-155del | ENSP00000428252.2:n.-156_-155del | |
| ENST00000697292.1:c.141_142del | ENSP00000513229.1:p.Leu48AsnfsTer3 | |
| ENST00000697293.1:c.141_142del | ENSP00000513230.1:p.Leu48AsnfsTer3 | |
| ENST00000697294.1:c.141_142del | ENSP00000513231.1:p.Leu48AsnfsTer3 | |
| ENST00000697295.1:c.37+1773_37+1774del | ENSP00000513232.1:n.37+1773_37+1774del | |
| ENST00000697296.1:c.141_142del | ENSP00000513233.1:p.Leu48AsnfsTer3 | |
| ENST00000697297.1:n.247_248del | ||
| ENST00000697298.1:c.-156_-155del | ENSP00000513234.1:n.-156_-155del | |
| ENST00000697299.1:c.-75-1229_-75-1228del | ENSP00000513235.1:n.-75-1229_-75-1228del | |
| ENST00000697300.1:c.-156_-155del | ENSP00000513236.1:n.-156_-155del | |
| ENST00000697301.1:c.-156_-155del | ENSP00000513237.1:n.-156_-155del | |
| ENST00000697302.1:c.141_142del | ENSP00000513238.1:p.Leu48AsnfsTer3 | |
| ENST00000697303.1:c.141_142del | ENSP00000513239.1:p.Leu48AsnfsTer3 | |
| ENST00000697304.1:c.141_142del | ENSP00000513240.1:p.Leu48AsnfsTer3 | |
| ENST00000697306.1:c.141_142del | ENSP00000513241.1:p.Leu48AsnfsTer3 | |
| ENST00000697307.1:c.141_142del | ENSP00000513242.1:p.Leu48AsnfsTer3 | |
| ENST00000697308.1:c.141_142del | ENSP00000513243.1:p.Leu48AsnfsTer3 | |
| ENST00000697309.1:c.141_142del | ENSP00000513244.1:p.Leu48AsnfsTer3 | |
| ENST00000697310.1:c.141_142del | ENSP00000513245.1:p.Leu48AsnfsTer3 | |
| ENST00000697311.1:c.141_142del | ENSP00000513246.1:p.Leu48AsnfsTer3 | |
| ENST00000697312.1:c.141_142del | ENSP00000513247.1:p.Leu48AsnfsTer3 | |
| ENST00000697313.1:n.253_254del | ||
| ENST00000697314.1:n.253_254del | ||
| ENST00000697315.1:c.141_142del | ENSP00000513248.1:p.Leu48AsnfsTer3 | |
| ENST00000697316.1:n.262_263del | ||
| ENST00000697317.1:n.251_252del | ||
| ENST00000697318.1:n.253_254del | ||
| ENST00000265433.8:c.141_142del MANE Select | ENSP00000265433.4:p.Leu48AsnfsTer3 | |
| ENST00000265433.7:c.141_142del | ENSP00000265433.3:p.Leu48AsnfsTer3 | |
| ENST00000396252.6:c.141_142del | ENSP00000379551.2:p.Leu48AsnfsTer3 | |
| ENST00000409330.5:c.-106_-105del | ENSP00000386924.1:n.-106_-105del | |
| ENST00000494804.1:n.245_246del | ||
| ENST00000517337.1:c.-156_-155del | ENSP00000429971.1:n.-156_-155del | |
| ENST00000519426.5:c.141_142del | ENSP00000430983.1:p.Leu48AsnfsTer3 | |
| ENST00000523444.1:c.141_142del | ENSP00000428252.1:p.Leu48AsnfsTer3 | |
| NM_001024688.2:c.-156_-155del | NP_001019859.1:n.-156_-155del | |
| NM_002485.4:c.141_142del , LRG_158t1:c.141_142del | NP_002476.2:p.Leu48AsnfsTer3 | |
| XM_011517044.1:c.117_118del | XP_011515346.1:p.Leu40AsnfsTer3 | |
| XM_011517045.1:c.-156_-155del | XP_011515347.1:n.-156_-155del | |
| XM_011517046.1:c.141_142del | XP_011515348.1:p.Leu48AsnfsTer3 | |
| XR_928335.1:n.278_279del | ||
| XM_017013460.1:c.-879_-878del | XP_016868949.1:n.-879_-878del | |
| XM_017013462.2:c.-685_-684del | XP_016868951.1:n.-685_-684del | |
| XM_024447163.1:c.-106_-105del | XP_024302931.1:n.-106_-105del | |
| XM_024447165.1:c.-829_-828del | XP_024302933.1:n.-829_-828del | |
| NM_002485.5:c.141_142del MANE Select | NP_002476.2:p.Leu48AsnfsTer3 | |
| NM_001024688.3:c.-156_-155del | NP_001019859.1:n.-156_-155del |