Canonical Allele Identifier: CA253126
Gene: STRC HGNC NCBI

Linked Data

ClinVar Variation Id: 4344
ClinVar RCV Id: RCV000004592
dbSNP Id: rs786200883

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43614438_43614441del , CM000677.2:g.43614438_43614441del GRCh38
NC_000015.9:g.43906636_43906639del , CM000677.1:g.43906636_43906639del GRCh37
NC_000015.8:g.41693928_41693931del NCBI36
NG_011636.1:g.9362_9365del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.2171_2174del MANE Select ENSP00000401513.2:p.Val724GlyfsTer6
ENST00000643290.1:c.1554_1557del ENSP00000495476.1:n.1554_1557del
ENST00000428650.5:c.2171_2174del ENSP00000415991.1:p.Val724GlyfsTer6
ENST00000440125.5:c.*173_*176del ENSP00000394866.1:n.*173_*176del
ENST00000450892.6:c.2171_2174del ENSP00000401513.2:p.Val724GlyfsTer6
ENST00000541030.5:c.62_65del ENSP00000440413.1:p.Val21GlyfsTer6
NM_153700.2:c.2171_2174del MANE Select NP_714544.1:p.Val724GlyfsTer6
XM_011521277.1:c.2660_2663del XP_011519579.1:p.Val887GlyfsTer6
XM_011521278.1:c.2198_2201del XP_011519580.1:p.Val733GlyfsTer6
XM_011521279.1:c.2198_2201del XP_011519581.1:p.Val733GlyfsTer6