Canonical Allele Identifier: CA7527976

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs746877769
• ExAC: 15:43893729 T / TC
• MyVariant Identifiers: chr15:g.43893730_43893731insC (hg19) ; chr15:g.43893729_43893730insC (hg19) ; chr15:g.43601531_43601532insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601535dup , CM000677.2:g.43601535dup	GRCh38
NC_000015.9:g.43893733dup , CM000677.1:g.43893733dup	GRCh37
NC_000015.8:g.41681025dup	NCBI36
NG_011636.1:g.22269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4565dup (STRC) MANE Select	ENSP00000401513.2:p.Phe1523IlefsTer4
ENST00000411560.1:n.142+2002dup (CKMT1B)
ENST00000428650.5:c.*1598dup (STRC)	ENSP00000415991.1:n.*1598dup
ENST00000440125.5:c.*2357dup (STRC)	ENSP00000394866.1:n.*2357dup
ENST00000448437.6:n.1685dup (STRC)
ENST00000450892.6:c.4565dup (STRC)	ENSP00000401513.2:p.Phe1523IlefsTer4
ENST00000460952.1:n.144dup (STRC)
ENST00000471703.5:n.2519dup (STRC)
ENST00000485556.5:n.3420dup (STRC)
ENST00000493750.1:n.361dup (STRC)
ENST00000541030.5:c.2246dup (STRC)	ENSP00000440413.1:p.Phe750IlefsTer4
NM_153700.2:c.4565dup (STRC) MANE Select	NP_714544.1:p.Phe1523IlefsTer4
XM_011521277.1:c.5054dup (STRC)	XP_011519579.1:p.Phe1686IlefsTer4
XM_011521278.1:c.4670dup (STRC)	XP_011519580.1:p.Phe1558IlefsTer4
XM_011521279.1:c.4670dup (STRC)	XP_011519581.1:p.Phe1558IlefsTer4