Canonical Allele Identifier: CA7527960

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs758118391
• ExAC: 15:43893678 TC / T
• gnomAD v2: 15-43893678-TC-T
• gnomAD v4: 15-43601480-TC-T
• MyVariant Identifiers: chr15:g.43893679del (hg19) ; chr15:g.43601481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601482del , CM000677.2:g.43601482del	GRCh38
NC_000015.9:g.43893680del , CM000677.1:g.43893680del	GRCh37
NC_000015.8:g.41680972del	NCBI36
NG_011636.1:g.22320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4616del (STRC) MANE Select	ENSP00000401513.2:p.Gly1539GlufsTer8
ENST00000411560.1:n.142+1949del (CKMT1B)
ENST00000428650.5:c.*1649del (STRC)	ENSP00000415991.1:n.*1649del
ENST00000440125.5:c.*2408del (STRC)	ENSP00000394866.1:n.*2408del
ENST00000448437.6:n.1736del (STRC)
ENST00000450892.6:c.4616del (STRC)	ENSP00000401513.2:p.Gly1539GlufsTer8
ENST00000460952.1:n.195del (STRC)
ENST00000471703.5:n.2570del (STRC)
ENST00000485556.5:n.3471del (STRC)
ENST00000493750.1:n.412del (STRC)
ENST00000541030.5:c.2297del (STRC)	ENSP00000440413.1:p.Gly766GlufsTer8
NM_153700.2:c.4616del (STRC) MANE Select	NP_714544.1:p.Gly1539GlufsTer8
XM_011521277.1:c.5105del (STRC)	XP_011519579.1:p.Gly1702GlufsTer8
XM_011521278.1:c.4721del (STRC)	XP_011519580.1:p.Gly1574GlufsTer8
XM_011521279.1:c.4721del (STRC)	XP_011519581.1:p.Gly1574GlufsTer8