Linked Data
dbSNP Id:
rs1196787539
gnomAD v3:
11-108147286-A-ATTGT
gnomAD v4:
11-108147286-A-ATTGT
MyVariant Identifiers:
chr11:g.108018013_108018014insTTGT (hg19)
chr11:g.108147286_108147287insTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108147288_108147291dup , CM000673.2:g.108147288_108147291dup | GRCh38 |
| NC_000011.9:g.108018015_108018018dup , CM000673.1:g.108018015_108018018dup | GRCh37 |
| NC_000011.8:g.107523225_107523228dup | NCBI36 |
| NG_009888.1:g.30758_30761dup | |
| NG_009888.2:g.35584_35587dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.1182_1185dup MANE Select | ENSP00000265838.4:p.Gly396CysfsTer? | |
| ENST00000671707.1:n.1277_1280dup | ||
| ENST00000672031.1:c.*169_*172dup | ENSP00000500463.1:n.*169_*172dup | |
| ENST00000672284.1:c.912_915dup | ENSP00000500444.1:p.Gly306CysfsTer? | |
| ENST00000672354.1:c.1203_1206dup | ENSP00000500490.1:p.Gly403CysfsTer? | |
| ENST00000672367.1:c.819_822dup | ENSP00000500209.1:p.Gly275CysfsTer? | |
| ENST00000672580.1:c.*437_*440dup | ENSP00000500366.1:n.*437_*440dup | |
| ENST00000672907.1:c.867_870dup | ENSP00000500928.1:p.Gly291CysfsTer? | |
| ENST00000673000.1:n.1270_1273dup | ||
| ENST00000673531.1:c.912_915dup | ENSP00000500163.1:p.Gly306CysfsTer? | |
| ENST00000265838.8:c.1182_1185dup | ENSP00000265838.4:p.Gly396CysfsTer? | |
| ENST00000533597.1:n.258_261dup | ||
| NM_000019.3:c.1182_1185dup | NP_000010.1:p.Gly396CysfsTer? | |
| XM_006718834.2:c.912_915dup | XP_006718897.1:p.Gly306CysfsTer? | |
| XM_006718835.2:c.912_915dup | XP_006718898.1:p.Gly306CysfsTer? | |
| XM_006718835.3:c.912_915dup | XP_006718898.1:p.Gly306CysfsTer? | |
| XM_017017681.1:c.912_915dup | XP_016873170.1:p.Gly306CysfsTer? | |
| XM_017017682.2:c.804_807dup | XP_016873171.1:p.Gly270CysfsTer? | |
| XM_017017683.2:c.804_807dup | XP_016873172.1:p.Gly270CysfsTer? | |
| XM_024448511.1:c.912_915dup | XP_024304279.1:p.Gly306CysfsTer? | |
| XM_024448512.1:c.912_915dup | XP_024304280.1:p.Gly306CysfsTer? | |
| XM_024448513.1:c.912_915dup | XP_024304281.1:p.Gly306CysfsTer? | |
| XM_024448514.1:c.912_915dup | XP_024304282.1:p.Gly306CysfsTer? | |
| XM_024448515.1:c.912_915dup | XP_024304283.1:p.Gly306CysfsTer? | |
| NM_000019.4:c.1182_1185dup MANE Select | NP_000010.1:p.Gly396CysfsTer? | |
| NM_001386677.1:c.1203_1206dup | NP_001373606.1:p.Gly403CysfsTer? | |
| NM_001386678.1:c.867_870dup | NP_001373607.1:p.Gly291CysfsTer? | |
| NM_001386679.1:c.885_888dup | NP_001373608.1:p.Gly297CysfsTer? | |
| NM_001386681.1:c.912_915dup | NP_001373610.1:p.Gly306CysfsTer? | |
| NM_001386682.1:c.912_915dup | NP_001373611.1:p.Gly306CysfsTer? | |
| NM_001386685.1:c.912_915dup | NP_001373614.1:p.Gly306CysfsTer? | |
| NM_001386686.1:c.912_915dup | NP_001373615.1:p.Gly306CysfsTer? | |
| NM_001386687.1:c.912_915dup | NP_001373616.1:p.Gly306CysfsTer? | |
| NM_001386688.1:c.912_915dup | NP_001373617.1:p.Gly306CysfsTer? | |
| NM_001386689.1:c.912_915dup | NP_001373618.1:p.Gly306CysfsTer? | |
| NM_001386690.1:c.912_915dup | NP_001373619.1:p.Gly306CysfsTer? | |
| NM_001386691.1:c.912_915dup | NP_001373620.1:p.Gly306CysfsTer? | |
| NR_170162.1:n.1157_1160dup | ||
| NR_170163.1:n.1215_1218dup |