Linked Data
ClinVar Variation Id:
102516
ClinVar RCV Id:
RCV000088749
dbSNP Id:
rs199475667
gnomAD v4:
12-102843756-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843758_102843759del , CM000674.2:g.102843758_102843759del | GRCh38 |
| NC_000012.11:g.103237536_103237537del , CM000674.1:g.103237536_103237537del | GRCh37 |
| NC_000012.10:g.101761666_101761667del | NCBI36 |
| NG_008690.1:g.78845_78846del | |
| NG_008690.2:g.119653_119654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1087_1088del MANE Select | ENSP00000448059.1:p.Lys363AlafsTer30 | |
| ENST00000307000.7:c.1072_1073del | ENSP00000303500.2:p.Lys358AlafsTer30 | |
| ENST00000549247.6:n.846_847del | ||
| ENST00000551114.2:n.749_750del | ||
| ENST00000553106.5:c.1087_1088del | ENSP00000448059.1:p.Lys363AlafsTer30 | |
| ENST00000635477.1:c.191_192del | ||
| ENST00000635528.1:n.602_603del | ||
| NM_000277.1:c.1087_1088del | NP_000268.1:p.Lys363AlafsTer30 | |
| XM_011538422.1:c.1030_1031del | XP_011536724.1:p.Lys344AlafsTer30 | |
| NM_000277.2:c.1087_1088del | NP_000268.1:p.Lys363AlafsTer30 | |
| NM_001354304.1:c.1087_1088del | NP_001341233.1:p.Lys363AlafsTer30 | |
| NM_000277.3:c.1087_1088del MANE Select | NP_000268.1:p.Lys363AlafsTer30 | |
| NM_001354304.2:c.1087_1088del | NP_001341233.1:p.Lys363AlafsTer30 |