Linked Data
ClinVar Variation Id:
141025
dbSNP Id:
rs587781442
gnomAD v2:
11-94169012-T-TGAAGTGGTAGGAAAAATGTC
gnomAD v3:
11-94435846-T-TGAAGTGGTAGGAAAAATGTC
gnomAD v4:
11-94435846-T-TGAAGTGGTAGGAAAAATGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94435847_94435866dup , CM000673.2:g.94435847_94435866dup | GRCh38 |
| NC_000011.9:g.94169013_94169032dup , CM000673.1:g.94169013_94169032dup | GRCh37 |
| NC_000011.8:g.93808661_93808680dup | NCBI36 |
| NG_007261.1:g.63009_63028dup , LRG_85:g.63009_63028dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1960_1979dup MANE Select | ENSP00000325863.4:p.Lys661ThrfsTer? | |
| ENST00000323929.7:c.1960_1979dup | ENSP00000325863.3:p.Lys661ThrfsTer? | |
| ENST00000323977.7:c.1876_1895dup | ENSP00000326094.3:p.Lys633ThrfsTer? | |
| ENST00000393241.8:c.1957_1976dup | ENSP00000376933.4:p.Lys660ThrfsTer? | |
| ENST00000407439.7:c.1969_1988dup | ENSP00000385614.3:p.Lys664ThrfsTer? | |
| NM_005590.3:c.1876_1895dup | NP_005581.2:p.Lys633ThrfsTer? | |
| NM_005591.3:c.1960_1979dup , LRG_85t1:c.1960_1979dup | NP_005582.1:p.Lys661ThrfsTer? | |
| XM_005274008.2:c.1492_1511dup | XP_005274065.1:p.Lys505ThrfsTer? | |
| XM_006718842.2:c.1957_1976dup | XP_006718905.1:p.Lys660ThrfsTer? | |
| XM_011542837.1:c.1960_1979dup | XP_011541139.1:p.Lys661ThrfsTer? | |
| XR_947828.1:n.2256_2275dup | ||
| NM_001330347.1:c.1957_1976dup | NP_001317276.1:p.Lys660ThrfsTer? | |
| XM_005274008.3:c.1492_1511dup | XP_005274065.1:p.Lys505ThrfsTer? | |
| XM_006718842.3:c.1957_1976dup | XP_006718905.1:p.Lys660ThrfsTer? | |
| XM_011542837.2:c.1960_1979dup | XP_011541139.1:p.Lys661ThrfsTer? | |
| XM_017017772.1:c.1960_1979dup | XP_016873261.1:p.Lys661ThrfsTer? | |
| XR_947828.2:n.2256_2275dup | ||
| NM_001330347.2:c.1957_1976dup | NP_001317276.1:p.Lys660ThrfsTer? | |
| NM_005590.4:c.1876_1895dup | NP_005581.2:p.Lys633ThrfsTer? | |
| NM_005591.4:c.1960_1979dup MANE Select | NP_005582.1:p.Lys661ThrfsTer? |