Linked Data
ClinVar Variation Id:
807630
dbSNP Id:
rs1565228898
gnomAD v2:
11-94204763-AAG-A
gnomAD v3:
11-94471597-AAG-A
gnomAD v4:
11-94471597-AAG-A
MyVariant Identifiers:
chr11:g.94204764_94204765del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94471601_94471602del , CM000673.2:g.94471601_94471602del | GRCh38 |
| NC_000011.9:g.94204767_94204768del , CM000673.1:g.94204767_94204768del | GRCh37 |
| NC_000011.8:g.93844415_93844416del | NCBI36 |
| NG_007261.1:g.27276_27277del , LRG_85:g.27276_27277del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.820_821del MANE Select | ENSP00000325863.4:p.Leu274PhefsTer16 | |
| ENST00000323929.7:c.820_821del | ENSP00000325863.3:p.Leu274PhefsTer16 | |
| ENST00000323977.7:c.820_821del | ENSP00000326094.3:p.Leu274PhefsTer16 | |
| ENST00000393241.8:c.820_821del | ENSP00000376933.4:p.Leu274PhefsTer16 | |
| ENST00000407439.7:c.829_830del | ENSP00000385614.3:p.Leu277PhefsTer16 | |
| NM_005590.3:c.820_821del | NP_005581.2:p.Leu274PhefsTer16 | |
| NM_005591.3:c.820_821del , LRG_85t1:c.820_821del | NP_005582.1:p.Leu274PhefsTer16 | |
| XM_005274008.2:c.352_353del | XP_005274065.1:p.Leu118PhefsTer16 | |
| XM_006718842.2:c.820_821del | XP_006718905.1:p.Leu274PhefsTer16 | |
| XM_011542837.1:c.820_821del | XP_011541139.1:p.Leu274PhefsTer16 | |
| XR_947828.1:n.1116_1117del | ||
| NM_001330347.1:c.820_821del | NP_001317276.1:p.Leu274PhefsTer16 | |
| XM_005274008.3:c.352_353del | XP_005274065.1:p.Leu118PhefsTer16 | |
| XM_006718842.3:c.820_821del | XP_006718905.1:p.Leu274PhefsTer16 | |
| XM_011542837.2:c.820_821del | XP_011541139.1:p.Leu274PhefsTer16 | |
| XM_017017772.1:c.820_821del | XP_016873261.1:p.Leu274PhefsTer16 | |
| XR_947828.2:n.1116_1117del | ||
| NM_001330347.2:c.820_821del | NP_001317276.1:p.Leu274PhefsTer16 | |
| NM_005590.4:c.820_821del | NP_005581.2:p.Leu274PhefsTer16 | |
| NM_005591.4:c.820_821del MANE Select | NP_005582.1:p.Leu274PhefsTer16 |