Canonical Allele Identifier: CA2628142454

Gene: STRC CKMT1B

Linked Data

• gnomAD v4: 15-43601534-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601534_43601535insT , CM000677.2:g.43601534_43601535insT	GRCh38
NC_000015.9:g.43893732_43893733insT , CM000677.1:g.43893732_43893733insT	GRCh37
NC_000015.8:g.41681024_41681025insT	NCBI36
NG_011636.1:g.22266_22267insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4562_4563insA (STRC) MANE Select	ENSP00000401513.2:p.Phe1523IlefsTer4
ENST00000411560.1:n.142+2001_142+2002insT (CKMT1B)
ENST00000428650.5:c.*1595_*1596insA (STRC)	ENSP00000415991.1:n.*1595_*1596insA
ENST00000440125.5:c.*2354_*2355insA (STRC)	ENSP00000394866.1:n.*2354_*2355insA
ENST00000448437.6:n.1682_1683insA (STRC)
ENST00000450892.6:c.4562_4563insA (STRC)	ENSP00000401513.2:p.Phe1523IlefsTer4
ENST00000460952.1:n.141_142insA (STRC)
ENST00000471703.5:n.2516_2517insA (STRC)
ENST00000485556.5:n.3417_3418insA (STRC)
ENST00000493750.1:n.358_359insA (STRC)
ENST00000541030.5:c.2243_2244insA (STRC)	ENSP00000440413.1:p.Phe750IlefsTer4
NM_153700.2:c.4562_4563insA (STRC) MANE Select	NP_714544.1:p.Phe1523IlefsTer4
XM_011521277.1:c.5051_5052insA (STRC)	XP_011519579.1:p.Phe1686IlefsTer4
XM_011521278.1:c.4667_4668insA (STRC)	XP_011519580.1:p.Phe1558IlefsTer4
XM_011521279.1:c.4667_4668insA (STRC)	XP_011519581.1:p.Phe1558IlefsTer4