Linked Data
ClinVar Variation Id:
556509
ClinVar RCV Id:
RCV000672528
dbSNP Id:
rs1555641027
MyVariant Identifiers:
chr18:g.23568851_23568872dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23568853_23568874dup , CM000680.2:g.23568853_23568874dup | GRCh38 |
| NC_000018.9:g.21148817_21148838dup , CM000680.1:g.21148817_21148838dup | GRCh37 |
| NC_000018.8:g.19402815_19402836dup | NCBI36 |
| NG_012795.1:g.22746_22767dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.414_435dup MANE Select | ENSP00000269228.4:p.Tyr146AsnfsTer31 | |
| ENST00000269228.9:c.414_435dup | ENSP00000269228.4:p.Tyr146AsnfsTer31 | |
| ENST00000540608.5:n.328_349dup | ||
| NM_000271.4:c.414_435dup | NP_000262.2:p.Tyr146AsnfsTer31 | |
| XM_005258277.1:c.414_435dup | XP_005258334.1:p.Tyr146AsnfsTer31 | |
| XM_005258278.3:c.414_435dup | XP_005258335.1:p.Tyr146AsnfsTer31 | |
| XM_005258279.1:c.414_435dup | XP_005258336.1:p.Tyr146AsnfsTer31 | |
| XM_006722479.2:c.414_435dup | XP_006722542.1:p.Tyr146AsnfsTer31 | |
| XM_011526015.1:c.-52_-31dup | XP_011524317.1:n.-52_-31dup | |
| XM_005258278.5:c.414_435dup | XP_005258335.1:p.Tyr146AsnfsTer31 | |
| XM_005258279.2:c.414_435dup | XP_005258336.1:p.Tyr146AsnfsTer31 | |
| XM_006722479.3:c.414_435dup | XP_006722542.1:p.Tyr146AsnfsTer31 | |
| XM_017025784.1:c.414_435dup | XP_016881273.1:p.Tyr146AsnfsTer31 | |
| XM_017025785.1:c.414_435dup | XP_016881274.1:p.Tyr146AsnfsTer31 | |
| XM_017025786.1:c.414_435dup | XP_016881275.1:p.Tyr146AsnfsTer31 | |
| XM_017025787.1:c.414_435dup | XP_016881276.1:p.Tyr146AsnfsTer31 | |
| NM_000271.5:c.414_435dup MANE Select | NP_000262.2:p.Tyr146AsnfsTer31 |