Linked Data
ClinVar Variation Id:
372282
ClinVar RCV Id:
RCV000412529
dbSNP Id:
rs1057518755
MyVariant Identifiers:
chr12:g.21620458_21620461dupCAAA (hg19)
chr12:g.21467524_21467527dupCAAA (hg38)
PubMed:
PMID:27745833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21467524_21467527dup , CM000674.2:g.21467524_21467527dup | GRCh38 |
| NC_000012.11:g.21620458_21620461dup , CM000674.1:g.21620458_21620461dup | GRCh37 |
| NC_000012.10:g.21511725_21511728dup | NCBI36 |
| NG_053196.1:g.34921_34924dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000240651.14:c.1160_1163dup MANE Select | ENSP00000240651.9:p.Lys388AsnfsTer14 | |
| ENST00000240651.13:c.1160_1163dup | ENSP00000240651.9:p.Lys388AsnfsTer14 | |
| ENST00000375266.8:c.*1086_*1089dup | ENSP00000364415.4:n.*1086_*1089dup | |
| ENST00000536851.1:n.537_540dup | ||
| ENST00000538582.5:c.947_950dup | ENSP00000438505.1:p.Lys317AsnfsTer14 | |
| ENST00000538615.1:n.235_238dup | ||
| ENST00000544970.5:c.*666_*669dup | ENSP00000439106.1:n.*666_*669dup | |
| NM_024854.3:c.1160_1163dup | NP_079130.2:p.Lys388AsnfsTer14 | |
| XR_242902.3:n.1292_1295dup | ||
| NM_001350912.1:c.947_950dup | NP_001337841.1:p.Lys317AsnfsTer14 | |
| NM_001350913.1:c.383_386dup | NP_001337842.1:p.Lys129AsnfsTer14 | |
| NM_024854.4:c.1160_1163dup | NP_079130.2:p.Lys388AsnfsTer14 | |
| XM_017019976.2:c.416_419dup | XP_016875465.1:p.Lys140AsnfsTer14 | |
| XR_242902.4:n.1266_1269dup | ||
| NM_024854.5:c.1160_1163dup MANE Select | NP_079130.2:p.Lys388AsnfsTer14 | |
| NM_001350913.2:c.383_386dup | NP_001337842.1:p.Lys129AsnfsTer14 | |
| NM_001350912.2:c.947_950dup | NP_001337841.1:p.Lys317AsnfsTer14 |