Canonical Allele Identifier: CA2173247850

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs2085652069

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599968_43599969insA , CM000677.2:g.43599968_43599969insA	GRCh38
NC_000015.9:g.43892166_43892167insA , CM000677.1:g.43892166_43892167insA	GRCh37
NC_000015.8:g.41679458_41679459insA	NCBI36
NG_011636.1:g.23832_23833insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5230_5231insT (STRC) MANE Select	ENSP00000401513.2:p.Glu1744ValfsTer?
ENST00000411560.1:n.142+435_142+436insA (CKMT1B)
ENST00000428650.5:c.*2263_*2264insT (STRC)	ENSP00000415991.1:n.*2263_*2264insT
ENST00000440125.5:c.*3022_*3023insT (STRC)	ENSP00000394866.1:n.*3022_*3023insT
ENST00000448437.6:n.2350_2351insT (STRC)
ENST00000450892.6:c.5230_5231insT (STRC)	ENSP00000401513.2:p.Glu1744ValfsTer?
ENST00000471703.5:n.3184_3185insT (STRC)
ENST00000485556.5:n.4085_4086insT (STRC)
ENST00000541030.5:c.2911_2912insT (STRC)	ENSP00000440413.1:p.Glu971ValfsTer?
NM_153700.2:c.5230_5231insT (STRC) MANE Select	NP_714544.1:p.Glu1744ValfsTer?
XM_011521277.1:c.5719_5720insT (STRC)	XP_011519579.1:p.Glu1907ValfsTer?
XM_011521278.1:c.5335_5336insT (STRC)	XP_011519580.1:p.Glu1779ValfsTer?
XM_011521279.1:c.5335_5336insT (STRC)	XP_011519581.1:p.Glu1779ValfsTer?