Linked Data
ClinVar Variation Id:
103063
ClinVar RCV Id:
RCV000089323
dbSNP Id:
rs199476220
gnomAD v3:
19-54994427-TGA-T
gnomAD v4:
19-54994427-TGA-T
MyVariant Identifiers:
chr19:g.54994430_54994431del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54994430_54994431del , CM000681.2:g.54994430_54994431del | GRCh38 |
| NC_000019.8:g.60197610_60197611del | NCBI36 |
| NG_052633.1:g.46301_46302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448584.7:c.2870_2871del MANE Select | ENSP00000409370.2:p.Arg957MetfsTer15 | |
| ENST00000263437.10:c.2861_2862del | ENSP00000263437.6:p.Arg954MetfsTer15 | |
| ENST00000339757.11:c.2804_2805del | ENSP00000344074.7:p.Arg935MetfsTer15 | |
| ENST00000391721.8:c.2798_2799del | ENSP00000375601.4:p.Arg933MetfsTer15 | |
| ENST00000427260.6:c.2801_2802del | ENSP00000402474.2:p.Arg934MetfsTer15 | |
| ENST00000448584.6:c.2870_2871del | ENSP00000409370.2:p.Arg957MetfsTer15 | |
| ENST00000537859.5:c.2804_2805del | ENSP00000440601.1:p.Arg935MetfsTer15 | |
| ENST00000540597.5:n.3181_3182del | ||
| ENST00000542755.1:n.1213_1214del | ||
| ENST00000543010.5:c.2870_2871del | ENSP00000445135.1:p.Arg957MetfsTer15 | |
| ENST00000543277.1:c.697_698del | ENSP00000445846.1:n.697_698del | |
| NM_001174081.1:c.2870_2871del | NP_001167552.1:p.Arg957MetfsTer15 | |
| NM_001174082.1:c.2804_2805del | NP_001167553.1:p.Arg935MetfsTer15 | |
| NM_001174083.1:c.2801_2802del | NP_001167554.1:p.Arg934MetfsTer15 | |
| NM_017852.3:c.2870_2871del | NP_060322.1:p.Arg957MetfsTer15 | |
| NM_001174081.2:c.2870_2871del | NP_001167552.1:p.Arg957MetfsTer15 | |
| NM_001174082.2:c.2804_2805del | NP_001167553.1:p.Arg935MetfsTer15 | |
| NM_001348003.1:c.2861_2862del | NP_001334932.1:p.Arg954MetfsTer15 | |
| NM_017852.4:c.2870_2871del | NP_060322.1:p.Arg957MetfsTer15 | |
| NR_145325.1:n.3214_3215del | ||
| NM_017852.5:c.2870_2871del MANE Select | NP_060322.1:p.Arg957MetfsTer15 | |
| NM_001174081.3:c.2870_2871del | NP_001167552.1:p.Arg957MetfsTer15 | |
| NM_001174083.2:c.2801_2802del | NP_001167554.1:p.Arg934MetfsTer15 | |
| NM_001348003.2:c.2861_2862del | NP_001334932.1:p.Arg954MetfsTer15 | |
| NR_145325.2:n.3182_3183del | ||
| NM_001174082.3:c.2804_2805del | NP_001167553.1:p.Arg935MetfsTer15 |