Linked Data
dbSNP Id:
rs1269336290
gnomAD v2:
13-113772912-A-AGG
gnomAD v4:
13-113118598-A-AGG
MyVariant Identifiers:
chr13:g.113772912_113772913insGG (hg19)
chr13:g.113118598_113118599insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118599_113118600dup , CM000675.2:g.113118599_113118600dup | GRCh38 |
| NC_000013.10:g.113772913_113772914dup , CM000675.1:g.113772913_113772914dup | GRCh37 |
| NC_000013.9:g.112820914_112820915dup | NCBI36 |
| NG_009258.1:g.801_802dup , LRG_548:g.801_802dup | |
| NG_009262.1:g.17809_17810dup , LRG_554:g.17809_17810dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.926_927dup MANE Select | ENSP00000329546.4:p.Thr310GlyfsTer? | |
| ENST00000346342.7:c.926_927dup | ENSP00000329546.3:p.Thr310GlyfsTer? | |
| ENST00000375581.3:c.992_993dup | ENSP00000364731.3:p.Thr332GlyfsTer? | |
| ENST00000541084.5:c.740_741dup | ENSP00000442051.2:p.Thr248GlyfsTer? | |
| NM_000131.4:c.992_993dup , LRG_554t1:c.992_993dup | NP_000122.1:p.Thr332GlyfsTer? | |
| NM_001267554.1:c.740_741dup | NP_001254483.1:p.Thr248GlyfsTer? | |
| NM_019616.3:c.926_927dup , LRG_554t2:c.926_927dup | NP_062562.1:p.Thr310GlyfsTer? | |
| NR_051961.1:n.1013_1014dup | ||
| XM_006719963.2:c.785_786dup | XP_006720026.1:p.Thr263GlyfsTer? | |
| XM_011537474.1:c.1034_1035dup | XP_011535776.1:p.Thr346GlyfsTer? | |
| XM_011537475.1:c.848_849dup | XP_011535777.1:p.Thr284GlyfsTer? | |
| XM_011537476.1:c.686_687dup | XP_011535778.1:p.Thr230GlyfsTer? | |
| XM_011537477.1:c.995_996dup | XP_011535779.1:p.Thr333GlyfsTer? | |
| XM_006719963.3:c.830_831dup | XP_006720026.2:p.Thr278GlyfsTer? | |
| XM_011537474.2:c.1079_1080dup | XP_011535776.2:p.Thr361GlyfsTer? | |
| XM_011537475.2:c.893_894dup | XP_011535777.2:p.Thr299GlyfsTer? | |
| XM_011537476.2:c.686_687dup | XP_011535778.1:p.Thr230GlyfsTer? | |
| NM_019616.4:c.926_927dup MANE Select | NP_062562.1:p.Thr310GlyfsTer? | |
| NR_051961.2:n.1010_1011dup | ||
| NM_001267554.2:c.740_741dup | NP_001254483.1:p.Thr248GlyfsTer? |