Linked Data
ClinVar Variation Id:
2164714
ClinVar RCV Id:
RCV003088174
gnomAD v4:
12-102843727-GCTGTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843730_102843736del , CM000674.2:g.102843730_102843736del | GRCh38 |
| NC_000012.11:g.103237508_103237514del , CM000674.1:g.103237508_103237514del | GRCh37 |
| NC_000012.10:g.101761638_101761644del | NCBI36 |
| NG_008690.1:g.78869_78875del | |
| NG_008690.2:g.119677_119683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1111_1117del MANE Select | ENSP00000448059.1:p.Lys371ProfsTer27 | |
| ENST00000307000.7:c.1096_1102del | ENSP00000303500.2:p.Lys366ProfsTer27 | |
| ENST00000549247.6:n.870_876del | ||
| ENST00000551114.2:n.773_779del | ||
| ENST00000553106.5:c.1111_1117del | ENSP00000448059.1:p.Lys371ProfsTer27 | |
| ENST00000635477.1:c.215_221del | ||
| ENST00000635528.1:n.626_632del | ||
| NM_000277.1:c.1111_1117del | NP_000268.1:p.Lys371ProfsTer27 | |
| XM_011538422.1:c.1054_1060del | XP_011536724.1:p.Lys352ProfsTer27 | |
| NM_000277.2:c.1111_1117del | NP_000268.1:p.Lys371ProfsTer27 | |
| NM_001354304.1:c.1111_1117del | NP_001341233.1:p.Lys371ProfsTer27 | |
| NM_000277.3:c.1111_1117del MANE Select | NP_000268.1:p.Lys371ProfsTer27 | |
| NM_001354304.2:c.1111_1117del | NP_001341233.1:p.Lys371ProfsTer27 |