Linked Data
ClinVar Variation Id:
411312
dbSNP Id:
rs1060503246
MyVariant Identifiers:
chr12:g.52307004del (hg19)
chr12:g.52307003del (hg19)
chr12:g.51913220del (hg38)
chr12:g.51913219del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913220del , CM000674.2:g.51913220del | GRCh38 |
| NC_000012.11:g.52307004del , CM000674.1:g.52307004del | GRCh37 |
| NC_000012.10:g.50593271del | NCBI36 |
| NG_009549.1:g.10803del , LRG_543:g.10803del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.225del | ENSP00000446724.2:p.Arg75SerfsTer? | |
| ENST00000551576.6:c.183del | ENSP00000455848.2:p.Arg61SerfsTer? | |
| ENST00000552678.2:c.183del | ENSP00000457394.2:p.Arg61SerfsTer? | |
| ENST00000388922.9:c.183del MANE Select | ENSP00000373574.4:p.Arg61SerfsTer? | |
| ENST00000388922.8:c.183del | ENSP00000373574.4:p.Arg61SerfsTer? | |
| ENST00000419526.6:c.103+685del | ENSP00000392492.2:n.103+685del | |
| ENST00000547400.5:c.225del | ENSP00000446724.1:p.Arg75SerfsTer? | |
| ENST00000550683.5:c.225del | ENSP00000447884.1:p.Arg75SerfsTer? | |
| ENST00000551576.5:c.183del | ENSP00000455848.1:p.Arg61SerfsTer? | |
| NM_000020.2:c.183del , LRG_543t1:c.183del | NP_000011.2:p.Arg61SerfsTer? | |
| NM_001077401.1:c.183del | NP_001070869.1:p.Arg61SerfsTer? | |
| XM_005269235.2:c.183del | XP_005269292.1:p.Arg61SerfsTer? | |
| XM_011539008.1:c.225del | XP_011537310.1:p.Arg75SerfsTer? | |
| NM_000020.3:c.183del MANE Select | NP_000011.2:p.Arg61SerfsTer? | |
| NM_001077401.2:c.183del | NP_001070869.1:p.Arg61SerfsTer? |