Canonical Allele Identifier: CA273232

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 165302
• ClinVar RCV Id: RCV000151941
• dbSNP Id: rs727503442
• gnomAD v4: 15-43600915-GTCCAC-G
• MyVariant Identifiers: chr15:g.43893114_43893118del (hg19) ; chr15:g.43600916_43600920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600916_43600920del , CM000677.2:g.43600916_43600920del	GRCh38
NC_000015.9:g.43893114_43893118del , CM000677.1:g.43893114_43893118del	GRCh37
NC_000015.8:g.41680406_41680410del	NCBI36
NG_011636.1:g.22881_22885del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450892.7:c.4796_4800del (STRC) MANE Select	ENSP00000401513.2:p.Cys1599SerfsTer30
ENST00000411560.1:n.142+1383_142+1387del (CKMT1B)
ENST00000428650.5:c.*1829_*1833del (STRC)	ENSP00000415991.1:n.*1829_*1833del
ENST00000440125.5:c.*2588_*2592del (STRC)	ENSP00000394866.1:n.*2588_*2592del
ENST00000448437.6:n.1916_1920del (STRC)
ENST00000450892.6:c.4796_4800del (STRC)	ENSP00000401513.2:p.Cys1599SerfsTer30
ENST00000460952.1:n.375_379del (STRC)
ENST00000471703.5:n.2750_2754del (STRC)
ENST00000485556.5:n.3651_3655del (STRC)
ENST00000541030.5:c.2477_2481del (STRC)	ENSP00000440413.1:p.Cys826SerfsTer30
NM_153700.2:c.4796_4800del (STRC) MANE Select	NP_714544.1:p.Cys1599SerfsTer30
XM_011521277.1:c.5285_5289del (STRC)	XP_011519579.1:p.Cys1762SerfsTer30
XM_011521278.1:c.4901_4905del (STRC)	XP_011519580.1:p.Cys1634SerfsTer30
XM_011521279.1:c.4901_4905del (STRC)	XP_011519581.1:p.Cys1634SerfsTer30