Linked Data
dbSNP Id:
rs770419753
ExAC:
14:20925000 CAA / C
gnomAD v2:
14-20925000-CAA-C
gnomAD v3:
14-20456841-CAA-C
gnomAD v4:
14-20456841-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456843_20456844del , CM000676.2:g.20456843_20456844del | GRCh38 |
| NC_000014.8:g.20925002_20925003del , CM000676.1:g.20925002_20925003del | GRCh37 |
| NC_000014.7:g.19994842_19994843del | NCBI36 |
| NG_008718.1:g.6713_6714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.422_423del MANE Select | ENSP00000216714.3:p.Lys141SerfsTer8 | |
| ENST00000216714.7:c.422_423del | ENSP00000216714.3:p.Lys141SerfsTer8 | |
| ENST00000398030.8:c.422_423del | ENSP00000381111.4:p.Lys141SerfsTer8 | |
| ENST00000438886.1:c.271_272del | ||
| ENST00000553555.5:n.842_843del | ||
| ENST00000553681.5:c.422_423del | ENSP00000451327.1:p.Lys141SerfsTer8 | |
| ENST00000554813.5:n.488_489del | ||
| ENST00000555306.5:n.869_870del | ||
| ENST00000555414.5:c.422_423del | ENSP00000451979.1:p.Lys141SerfsTer8 | |
| ENST00000555839.5:c.422_423del | ENSP00000452460.1:p.Lys141SerfsTer20 | |
| ENST00000556054.5:c.422_423del | ENSP00000451170.1:p.Lys141SerfsTer8 | |
| ENST00000557054.1:c.28-280_28-279del | ENSP00000452212.2:n.28-280_28-279del | |
| ENST00000557150.5:c.371_372del | ENSP00000452418.1:p.Lys124SerfsTer8 | |
| ENST00000557159.5:n.1038_1039del | ||
| ENST00000557344.5:c.422_423del | ENSP00000452137.1:p.Lys141SerfsTer? | |
| ENST00000557365.1:n.502_503del | ||
| ENST00000557592.5:c.371_372del | ENSP00000451060.1:p.Lys124SerfsTer8 | |
| NM_001244249.1:c.422_423del | NP_001231178.1:p.Lys141SerfsTer8 | |
| NM_001641.3:c.422_423del | NP_001632.2:p.Lys141SerfsTer8 | |
| NM_080648.2:c.422_423del | NP_542379.1:p.Lys141SerfsTer8 | |
| NM_080649.2:c.422_423del | NP_542380.1:p.Lys141SerfsTer8 | |
| XM_005267581.3:c.422_423del | XP_005267638.1:p.Lys141SerfsTer8 | |
| XM_005267582.3:c.371_372del | XP_005267639.1:p.Lys124SerfsTer8 | |
| NM_001641.4:c.422_423del MANE Select | NP_001632.2:p.Lys141SerfsTer8 | |
| NM_001244249.2:c.422_423del | NP_001231178.1:p.Lys141SerfsTer8 | |
| NM_080648.3:c.422_423del | NP_542379.1:p.Lys141SerfsTer8 | |
| NM_080649.3:c.422_423del | NP_542380.1:p.Lys141SerfsTer8 |