Linked Data
ClinVar Variation Id:
53158
ClinVar RCV Id:
RCV000046190
dbSNP Id:
rs397508136
gnomAD v3:
7-117480081-GCGCCCGAGAGACCATGCAGAGGT-G
gnomAD v4:
7-117480081-GCGCCCGAGAGACCATGCAGAGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117480086_117480108del , CM000669.2:g.117480086_117480108del | GRCh38 |
| NC_000007.13:g.117120140_117120162del , CM000669.1:g.117120140_117120162del | GRCh37 |
| NC_000007.12:g.116907376_116907398del | NCBI36 |
| NG_016465.4:g.19303_19325del , LRG_663:g.19303_19325del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.-9_14del | ||
| ENST00000647978.2:c.-9_14del | ||
| ENST00000649781.2:c.-9_14del | ||
| ENST00000649850.2:c.-9_14del | ||
| ENST00000685018.2:c.-9_14del | ||
| ENST00000687278.2:c.-9_14del | ||
| ENST00000692802.2:n.76_98del | ||
| ENST00000693465.2:n.77_99del | ||
| ENST00000693480.2:n.76_98del | ||
| ENST00000699585.1:c.-9_14del | ||
| ENST00000699596.1:c.-9_14del | ||
| ENST00000699597.1:c.-9_14del | ||
| ENST00000699598.1:c.-9_14del | ||
| ENST00000699599.1:c.-9_14del | ||
| ENST00000699600.1:c.-9_14del | ||
| ENST00000699601.1:c.-9_14del | ||
| ENST00000699602.1:c.-9_14del | ||
| ENST00000699603.1:n.76_98del | ||
| ENST00000699604.1:c.-9_14del | ||
| ENST00000699605.1:c.-361_-339del | ENSP00000514473.1:n.-361_-339del | |
| ENST00000446805.2:c.-191+392_-191+414del | ENSP00000417012.1:n.-191+392_-191+414del | |
| ENST00000692802.1:n.62_84del | ||
| ENST00000693465.1:n.62_84del | ||
| ENST00000693480.1:n.62_84del | ||
| ENST00000003084.11:c.-9_14del | ||
| ENST00000647639.1:n.76_98del | ||
| ENST00000647978.1:c.-9_14del | ||
| ENST00000648260.1:c.-9_14del | ||
| ENST00000649406.1:c.-9_14del | ||
| ENST00000649850.1:n.75_97del | ||
| ENST00000673785.1:c.-406+14255_-406+14277del | ENSP00000501235.1:n.-406+14255_-406+14277... | |
| ENST00000003084.10:c.-9_14del | ||
| ENST00000446805.1:c.-191+392_-191+414del | ENSP00000417012.1:n.-191+392_-191+414del | |
| ENST00000546407.1:n.166+4278_166+4300del | ||
| NM_000492.3:c.-9_14del , LRG_663t1:c.-9_14del | ||
| XM_011515751.1:c.143+741_143+763del | XP_011514053.1:n.143+741_143+763del | |
| XM_011515752.1:c.143+741_143+763del | XP_011514054.1:n.143+741_143+763del | |
| XM_011515753.1:c.-191+392_-191+414del | XP_011514055.1:n.-191+392_-191+414del | |
| XM_011515754.1:c.-518-62_-518-40del | XP_011514056.1:n.-518-62_-518-40del | |
| NM_000492.4:c.-9_14del |