MyVariant.info:
GRCh38
chr9:g.34637289dupG
GRCh38
chr9:g.34637288_34637289insG
GRCh37
chr9:g.34637286dupG
GRCh37
chr9:g.34637285_34637286insG
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003391 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00001904 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34637290dup , CM000671.2:g.34637290dup | GRCh38 |
| NC_000009.11:g.34637287dup , CM000671.1:g.34637287dup | GRCh37 |
| NC_000009.10:g.34627287dup | NCBI36 |
| NG_029945.2:g.5483dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277010.9:c.283dup MANE Select | ENSP00000277010.4:p.Leu95ProfsTer29 | |
| ENST00000497006.2:n.430dup | ||
| ENST00000679597.1:c.223dup | ENSP00000505634.1:p.Leu75ProfsTer29 | |
| ENST00000680104.1:c.283dup | ENSP00000505949.1:p.Leu95ProfsTer29 | |
| ENST00000680244.1:c.283dup | ENSP00000505305.1:p.Leu95ProfsTer29 | |
| ENST00000680277.1:c.283dup | ENSP00000505742.1:p.Leu95ProfsTer? | |
| ENST00000680730.1:c.283dup | ENSP00000505588.1:p.Leu95ProfsTer12 | |
| ENST00000681409.1:n.402dup | ||
| ENST00000277010.8:c.283dup | ENSP00000277010.4:p.Leu95ProfsTer29 | |
| ENST00000353468.4:c.283dup | ENSP00000434453.1:p.Leu95ProfsTer? | |
| ENST00000378892.5:c.16dup | ENSP00000368170.1:p.Leu6ProfsTer29 | |
| ENST00000461426.1:n.508dup | ||
| ENST00000477726.1:c.283dup | ENSP00000420022.1:p.Leu95ProfsTer? | |
| ENST00000478146.1:n.124dup | ||
| ENST00000497006.1:n.269dup | ||
| NM_001282205.1:c.283dup | NP_001269134.1:p.Leu95ProfsTer29 | |
| NM_001282206.1:c.30dup | NP_001269135.1:p.Phe11LeufsTer13 | |
| NM_001282207.1:c.223dup | NP_001269136.1:p.Leu75ProfsTer29 | |
| NM_001282208.1:c.283dup | NP_001269137.1:p.Leu95ProfsTer? | |
| NM_001282209.1:c.283dup | NP_001269138.1:p.Leu95ProfsTer12 | |
| NM_005866.3:c.283dup | NP_005857.1:p.Leu95ProfsTer29 | |
| NM_147157.2:c.283dup | NP_671513.1:p.Leu95ProfsTer? | |
| NR_104108.1:n.368+44dup | ||
| XM_011517674.1:c.283dup | XP_011515976.1:p.Leu95ProfsTer21 | |
| NM_005866.4:c.283dup MANE Select | NP_005857.1:p.Leu95ProfsTer29 | |
| NM_001282205.2:c.283dup | NP_001269134.1:p.Leu95ProfsTer29 | |
| NM_001282206.2:c.30dup | NP_001269135.1:p.Phe11LeufsTer13 | |
| NM_001282207.2:c.223dup | NP_001269136.1:p.Leu75ProfsTer29 | |
| NM_001282208.2:c.283dup | NP_001269137.1:p.Leu95ProfsTer? | |
| NM_001282209.2:c.283dup | NP_001269138.1:p.Leu95ProfsTer12 | |
| NM_147157.3:c.283dup | NP_671513.1:p.Leu95ProfsTer? | |
| NR_104108.2:n.329+44dup |