Linked Data
dbSNP Id:
rs746705740
MyVariant Identifiers:
chr1:g.209807909_209807910insAGGT (hg19)
chr1:g.209634564_209634565insAGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209634566_209634569dup , CM000663.2:g.209634566_209634569dup | GRCh38 |
| NC_000001.10:g.209807911_209807914dup , CM000663.1:g.209807911_209807914dup | GRCh37 |
| NC_000001.9:g.207874534_207874537dup | NCBI36 |
| NG_007116.1:g.22908_22911dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.443_446dup MANE Select | ENSP00000348384.3:p.Ala150ProfsTer? | |
| ENST00000356082.8:c.443_446dup | ENSP00000348384.3:p.Ala150ProfsTer? | |
| ENST00000367030.7:c.443_446dup | ENSP00000355997.3:p.Ala150ProfsTer? | |
| ENST00000391911.5:c.443_446dup | ENSP00000375778.1:p.Ala150ProfsTer? | |
| ENST00000415782.1:c.443_446dup | ENSP00000388960.1:p.Ala150ProfsTer? | |
| NM_000228.2:c.443_446dup | NP_000219.2:p.Ala150ProfsTer? | |
| NM_001017402.1:c.443_446dup | NP_001017402.1:p.Ala150ProfsTer? | |
| NM_001127641.1:c.443_446dup | NP_001121113.1:p.Ala150ProfsTer? | |
| XM_005273124.3:c.443_446dup | XP_005273181.1:p.Ala150ProfsTer? | |
| XM_005273124.4:c.443_446dup | XP_005273181.1:p.Ala150ProfsTer? | |
| XM_017001272.2:c.373-1435_373-1432dup | XP_016856761.1:n.373-1435_373-1432dup | |
| NM_000228.3:c.443_446dup MANE Select | NP_000219.2:p.Ala150ProfsTer? | |
| NM_001017402.2:c.443_446dup | NP_001017402.1:p.Ala150ProfsTer? |