Canonical Allele Identifier: CA2575704285

Gene: STRC CKMT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43599907_43599908del , CM000677.2:g.43599907_43599908del	GRCh38
NC_000015.9:g.43892105_43892106del , CM000677.1:g.43892105_43892106del	GRCh37
NC_000015.8:g.41679397_41679398del	NCBI36
NG_011636.1:g.23893_23894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.5239+52_5239+53del (STRC) MANE Select	ENSP00000401513.2:n.5239+52_5239+53del
ENST00000411560.1:n.142+374_142+375del (CKMT1B)
ENST00000428650.5:c.*2272+52_*2272+53del (STRC)	ENSP00000415991.1:n.*2272+52_*2272+53del
ENST00000440125.5:c.*3031+52_*3031+53del (STRC)	ENSP00000394866.1:n.*3031+52_*3031+53del
ENST00000448437.6:n.2359+52_2359+53del (STRC)
ENST00000450892.6:c.5239+52_5239+53del (STRC)	ENSP00000401513.2:n.5239+52_5239+53del
ENST00000471703.5:n.3193+52_3193+53del (STRC)
ENST00000485556.5:n.4094+52_4094+53del (STRC)
ENST00000541030.5:c.2920+52_2920+53del (STRC)	ENSP00000440413.1:n.2920+52_2920+53del
NM_153700.2:c.5239+52_5239+53del (STRC) MANE Select	NP_714544.1:n.5239+52_5239+53del
XM_011521277.1:c.5728+52_5728+53del (STRC)	XP_011519579.1:n.5728+52_5728+53del
XM_011521278.1:c.5344+52_5344+53del (STRC)	XP_011519580.1:n.5344+52_5344+53del
XM_011521279.1:c.5344+52_5344+53del (STRC)	XP_011519581.1:n.5344+52_5344+53del