Linked Data
ClinVar Variation Id:
161828
ClinVar RCV Id:
RCV000149364
dbSNP Id:
rs193921016
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.21727906del , CM000681.2:g.21727906del | GRCh38 |
| NC_000019.9:g.21910708del , CM000681.1:g.21910708del | GRCh37 |
| NC_000019.8:g.21702548del | NCBI36 |
| NG_054926.1:g.44724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358296.11:c.407del MANE Select | ENSP00000351042.5:p.Gly136GlufsTer30 | |
| ENST00000305570.10:c.215del | ENSP00000445201.3:p.Gly72GlufsTer30 | |
| ENST00000358296.10:c.407del | ENSP00000351042.5:p.Gly136GlufsTer30 | |
| ENST00000608416.5:c.404del | ENSP00000476534.2:p.Gly135GlufsTer30 | |
| NM_173531.3:c.407del | NP_775802.2:p.Gly136GlufsTer30 | |
| XM_005259783.2:c.404del | XP_005259840.1:p.Gly135GlufsTer30 | |
| XM_005259784.2:c.308del | XP_005259841.1:p.Gly103GlufsTer30 | |
| XM_005259785.2:c.-239del | XP_005259842.1:n.-239del | |
| XM_006722662.2:c.218del | XP_006722725.1:p.Gly73GlufsTer30 | |
| XM_006722663.2:c.218del | XP_006722726.1:p.Gly73GlufsTer30 | |
| XM_011527741.1:c.218del | XP_011526043.1:p.Gly73GlufsTer30 | |
| XM_011527742.1:c.218del | XP_011526044.1:p.Gly73GlufsTer30 | |
| XM_011527743.1:c.215del | XP_011526045.1:p.Gly72GlufsTer30 | |
| XM_011527744.1:c.215del | XP_011526046.1:p.Gly72GlufsTer30 | |
| NM_001351669.1:c.404del | NP_001338598.1:p.Gly135GlufsTer30 | |
| NM_001351670.1:c.308del | NP_001338599.1:p.Gly103GlufsTer30 | |
| NM_001351671.1:c.104del | NP_001338600.1:p.Gly35GlufsTer30 | |
| NM_001351672.1:c.-239del | NP_001338601.1:n.-239del | |
| NM_173531.4:c.407del MANE Select | NP_775802.2:p.Gly136GlufsTer30 | |
| NM_001351669.2:c.404del | NP_001338598.1:p.Gly135GlufsTer30 | |
| NM_001351670.2:c.308del | NP_001338599.1:p.Gly103GlufsTer30 | |
| NM_001351671.2:c.104del | NP_001338600.1:p.Gly35GlufsTer30 | |
| NM_001351672.2:c.-239del | NP_001338601.1:n.-239del |