Linked Data
dbSNP Id:
rs1186858780
MyVariant Identifiers:
chr16:g.16249011_16249012insCAT (hg19)
chr16:g.16155154_16155155insCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155156_16155158dup , CM000678.2:g.16155156_16155158dup | GRCh38 |
| NC_000016.9:g.16249013_16249015dup , CM000678.1:g.16249013_16249015dup | GRCh37 |
| NC_000016.8:g.16156514_16156516dup | NCBI36 |
| NG_007558.2:g.73315_73317dup | |
| NG_007558.3:g.73461_73463dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.620_622dup | ||
| ENST00000622290.5:c.*55-126_*55-124dup | ENSP00000483331.2:n.*55-126_*55-124dup | |
| ENST00000205557.12:c.3883-126_3883-124dup MANE Select | ENSP00000205557.7:n.3883-126_3883-124dup | |
| ENST00000640696.1:c.697-126_697-124dup | ENSP00000492197.1:n.697-126_697-124dup | |
| ENST00000205557.11:c.3883-126_3883-124dup | ENSP00000205557.7:n.3883-126_3883-124dup | |
| ENST00000456970.6:c.3508-126_3508-124dup | ENSP00000405002.2:n.3508-126_3508-124dup | |
| ENST00000576204.5:n.620_622dup | ||
| ENST00000622290.4:c.*1092-126_*1092-124dup | ENSP00000483331.1:n.*1092-126_*1092-124dup | |
| NM_001171.5:c.3883-126_3883-124dup | NP_001162.4:n.3883-126_3883-124dup | |
| XM_011522479.1:c.3850-126_3850-124dup | XP_011520781.1:n.3850-126_3850-124dup | |
| XM_011522480.1:c.3541-126_3541-124dup | XP_011520782.1:n.3541-126_3541-124dup | |
| XM_011522481.1:c.3541-126_3541-124dup | XP_011520783.1:n.3541-126_3541-124dup | |
| XR_932836.1:n.4181-126_4181-124dup | ||
| XR_932837.1:n.3919-126_3919-124dup | ||
| XR_932838.1:n.3982-126_3982-124dup | ||
| XR_933134.1:n.539-4625_539-4623dup | ||
| NM_001351800.1:c.3541-126_3541-124dup | NP_001338729.1:n.3541-126_3541-124dup | |
| NR_147784.1:n.3545-126_3545-124dup | ||
| XM_011522479.2:c.3850-126_3850-124dup | XP_011520781.1:n.3850-126_3850-124dup | |
| XM_011522481.3:c.3541-126_3541-124dup | XP_011520783.1:n.3541-126_3541-124dup | |
| XM_017023212.1:c.3715-126_3715-124dup | XP_016878701.1:n.3715-126_3715-124dup | |
| XM_024450261.1:c.3919-126_3919-124dup | XP_024306029.1:n.3919-126_3919-124dup | |
| XR_932836.2:n.4127-126_4127-124dup | ||
| XR_932837.3:n.3864-126_3864-124dup | ||
| XR_932838.3:n.3927-126_3927-124dup | ||
| NM_001171.6:c.3883-126_3883-124dup MANE Select | NP_001162.5:n.3883-126_3883-124dup |