Linked Data
dbSNP Id:
rs760356449
ExAC:
9:107591160 GT / G
gnomAD v3:
9-104828879-GT-G
gnomAD v4:
9-104828879-GT-G
MyVariant Identifiers:
chr9:g.107591161del (hg19)
chr9:g.104828881del (hg38)
chr9:g.104828880del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104828882del , CM000671.2:g.104828882del | GRCh38 |
| NC_000009.11:g.107591163del , CM000671.1:g.107591163del | GRCh37 |
| NC_000009.10:g.106630984del | NCBI36 |
| NG_007981.1:g.104276del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374736.8:c.2115+36del MANE Select | ENSP00000363868.3:n.2115+36del | |
| ENST00000678995.1:c.2115+36del | ENSP00000504612.1:n.2115+36del | |
| ENST00000374736.7:c.2115+36del | ENSP00000363868.3:n.2115+36del | |
| ENST00000494467.1:n.288+36del | ||
| NM_005502.3:c.2115+36del | NP_005493.2:n.2115+36del | |
| XM_005251773.1:c.2115+36del | XP_005251830.1:n.2115+36del | |
| XM_005251776.1:c.1935+36del | XP_005251833.1:n.1935+36del | |
| XM_011518339.1:c.2190+36del | XP_011516641.1:n.2190+36del | |
| XM_011518340.1:c.2190+36del | XP_011516642.1:n.2190+36del | |
| XM_011518341.1:c.2190+36del | XP_011516643.1:n.2190+36del | |
| XM_011518342.1:c.1752+36del | XP_011516644.1:n.1752+36del | |
| XM_011518343.1:c.2190+36del | XP_011516645.1:n.2190+36del | |
| XM_011518344.1:c.2190+36del | XP_011516646.1:n.2190+36del | |
| XM_005251773.3:c.2115+36del | XP_005251830.1:n.2115+36del | |
| XM_005251776.3:c.1935+36del | XP_005251833.1:n.1935+36del | |
| XM_011518339.3:c.2190+36del | XP_011516641.1:n.2190+36del | |
| XM_011518340.3:c.2190+36del | XP_011516642.1:n.2190+36del | |
| XM_011518341.3:c.2190+36del | XP_011516643.1:n.2190+36del | |
| XM_011518342.3:c.1752+36del | XP_011516644.1:n.1752+36del | |
| XM_011518344.2:c.2190+36del | XP_011516646.1:n.2190+36del | |
| XM_017014378.2:c.2190+36del | XP_016869867.1:n.2190+36del | |
| XM_017014379.2:c.2190+36del | XP_016869868.1:n.2190+36del | |
| XM_017014380.2:c.2190+36del | XP_016869869.1:n.2190+36del | |
| XM_017014381.2:c.2190+36del | XP_016869870.1:n.2190+36del | |
| XM_017014382.2:c.2052+36del | XP_016869871.1:n.2052+36del | |
| XR_001746223.1:n.2503+36del | ||
| NM_005502.4:c.2115+36del MANE Select | NP_005493.2:n.2115+36del |