Linked Data
dbSNP Id:
rs1306368024
MyVariant Identifiers:
chr1:g.45444141_45444142insAAAAGAAA (hg19)
chr1:g.44978469_44978470insAAAAGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978478_44978485dup , CM000663.2:g.44978478_44978485dup | GRCh38 |
| NC_000001.10:g.45444150_45444157dup , CM000663.1:g.45444150_45444157dup | GRCh37 |
| NC_000001.9:g.45216737_45216744dup | NCBI36 |
| NG_015864.1:g.13213_13220dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.149-17_149-10dup MANE Select | ENSP00000353575.2:n.149-17_149-10dup | |
| ENST00000360403.6:c.149-17_149-10dup | ENSP00000353575.2:n.149-17_149-10dup | |
| ENST00000372182.6:n.262-17_262-10dup | ||
| ENST00000372183.7:c.149-17_149-10dup | ENSP00000361257.3:n.149-17_149-10dup | |
| ENST00000477953.5:n.252-17_252-10dup | ||
| ENST00000480675.5:c.149-17_149-10dup | ENSP00000485842.1:n.149-17_149-10dup | |
| ENST00000487532.5:n.261-17_261-10dup | ||
| ENST00000497010.1:n.261-17_261-10dup | ||
| ENST00000620860.4:c.149-17_149-10dup | ENSP00000483996.1:n.149-17_149-10dup | |
| NM_001166588.2:c.149-17_149-10dup | NP_001160060.1:n.149-17_149-10dup | |
| NM_001261418.1:c.149-17_149-10dup | NP_001248347.1:n.149-17_149-10dup | |
| NM_020365.4:c.149-17_149-10dup | NP_065098.1:n.149-17_149-10dup | |
| XM_011542396.1:c.149-17_149-10dup | XP_011540698.1:n.149-17_149-10dup | |
| XM_017002745.2:c.149-17_149-10dup | XP_016858234.1:n.149-17_149-10dup | |
| XM_017002746.1:c.-306-17_-306-10dup | XP_016858235.1:n.-306-17_-306-10dup | |
| XM_017002747.1:c.-306-17_-306-10dup | XP_016858236.1:n.-306-17_-306-10dup | |
| NM_020365.5:c.149-17_149-10dup MANE Select | NP_065098.1:n.149-17_149-10dup | |
| NM_001166588.3:c.149-17_149-10dup | NP_001160060.1:n.149-17_149-10dup | |
| NM_001261418.2:c.149-17_149-10dup | NP_001248347.1:n.149-17_149-10dup |