Linked Data
ClinVar Variation Id:
30444
ClinVar RCV Id:
RCV000023397
dbSNP Id:
rs587776885
PubMed:
PMID:20404132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111418748_111418752del , CM000674.2:g.111418748_111418752del | GRCh38 |
| NC_000012.11:g.111856552_111856556del , CM000674.1:g.111856552_111856556del | GRCh37 |
| NC_000012.10:g.110340935_110340939del | NCBI36 |
| NG_021216.1:g.17801_17805del , LRG_621:g.17801_17805del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341259.7:c.603_607del MANE Select | ENSP00000345492.2:p.Arg202GlnfsTer? | |
| ENST00000341259.6:c.603_607del | ENSP00000345492.2:p.Arg202GlnfsTer? | |
| ENST00000550925.2:c.409_413del | ||
| NM_005475.2:c.603_607del , LRG_621t1:c.603_607del | NP_005466.1:p.Arg202GlnfsTer? | |
| XM_005253818.3:c.603_607del | XP_005253875.1:p.Arg202GlnfsTer? | |
| XM_005253819.3:c.603_607del | XP_005253876.1:p.Arg202GlnfsTer? | |
| XM_011537719.1:c.603_607del | XP_011536021.1:p.Arg202GlnfsTer? | |
| XM_011537720.1:c.603_607del | XP_011536022.1:p.Arg202GlnfsTer? | |
| XM_011537722.1:c.603_607del | XP_011536024.1:p.Arg202GlnfsTer? | |
| XM_005253818.4:c.603_607del | XP_005253875.1:p.Arg202GlnfsTer? | |
| XM_005253819.4:c.603_607del | XP_005253876.1:p.Arg202GlnfsTer? | |
| XM_011537719.2:c.603_607del | XP_011536021.1:p.Arg202GlnfsTer? | |
| XM_011537720.3:c.603_607del | XP_011536022.1:p.Arg202GlnfsTer? | |
| XM_024448790.1:c.603_607del | XP_024304558.1:p.Arg202GlnfsTer? | |
| XR_001748535.1:n.1004_1008del | ||
| XR_001748536.1:n.1003_1007del | ||
| XR_002957278.1:n.1000_1004del | ||
| NM_005475.3:c.603_607del MANE Select | NP_005466.1:p.Arg202GlnfsTer? |