Linked Data
ClinVar Variation Id:
2501771
ClinVar RCV Id:
RCV003228190
dbSNP Id:
rs768893872
ExAC:
3:69168560 TGA / T
gnomAD v2:
3-69168560-TGA-T
gnomAD v3:
3-69119409-TGA-T
gnomAD v4:
3-69119409-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119413_69119414del , CM000665.2:g.69119413_69119414del | GRCh38 |
| NC_000003.11:g.69168564_69168565del , CM000665.1:g.69168564_69168565del | GRCh37 |
| NC_000003.10:g.69251254_69251255del | NCBI36 |
| NG_041828.1:g.8185_8186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.944_945del MANE Select | ENSP00000414670.3:p.Leu315GlnfsTer10 | |
| ENST00000420581.6:c.944_945del | ENSP00000414670.2:p.Leu315GlnfsTer10 | |
| ENST00000475434.1:c.944_945del | ENSP00000418645.1:p.Leu315GlnfsTer10 | |
| ENST00000489031.5:c.944_945del | ENSP00000417210.1:p.Leu315GlnfsTer10 | |
| NM_001304418.1:c.944_945del | NP_001291347.1:p.Leu315GlnfsTer10 | |
| NM_198271.4:c.944_945del | NP_938012.2:p.Leu315GlnfsTer10 | |
| NM_001304418.3:c.944_945del | NP_001291347.1:p.Leu315GlnfsTer10 | |
| NM_198271.5:c.944_945del MANE Select | NP_938012.2:p.Leu315GlnfsTer10 |