Canonical Allele Identifier: CA7527981

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs749358024
• ExAC: 15:43893733 C / CG
• gnomAD v2: 15-43893733-C-CG
• gnomAD v4: 15-43601535-C-CG
• COSMIC: COSM1373060
• MyVariant Identifiers: chr15:g.43893734_43893735insG (hg19) ; chr15:g.43893733_43893734insG (hg19) ; chr15:g.43601535_43601536insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601542dup , CM000677.2:g.43601542dup	GRCh38
NC_000015.9:g.43893740dup , CM000677.1:g.43893740dup	GRCh37
NC_000015.8:g.41681032dup	NCBI36
NG_011636.1:g.22265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4561dup (STRC) MANE Select	ENSP00000401513.2:p.Arg1521ProfsTer6
ENST00000411560.1:n.142+2009dup (CKMT1B)
ENST00000428650.5:c.*1594dup (STRC)	ENSP00000415991.1:n.*1594dup
ENST00000440125.5:c.*2353dup (STRC)	ENSP00000394866.1:n.*2353dup
ENST00000448437.6:n.1681dup (STRC)
ENST00000450892.6:c.4561dup (STRC)	ENSP00000401513.2:p.Arg1521ProfsTer6
ENST00000460952.1:n.140dup (STRC)
ENST00000471703.5:n.2515dup (STRC)
ENST00000485556.5:n.3416dup (STRC)
ENST00000493750.1:n.357dup (STRC)
ENST00000541030.5:c.2242dup (STRC)	ENSP00000440413.1:p.Arg748ProfsTer6
NM_153700.2:c.4561dup (STRC) MANE Select	NP_714544.1:p.Arg1521ProfsTer6
XM_011521277.1:c.5050dup (STRC)	XP_011519579.1:p.Arg1684ProfsTer6
XM_011521278.1:c.4666dup (STRC)	XP_011519580.1:p.Arg1556ProfsTer6
XM_011521279.1:c.4666dup (STRC)	XP_011519581.1:p.Arg1556ProfsTer6