Canonical Allele Identifier: CA618004401

Linked Data

dbSNP Id: rs1417345212

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601563_43601566del , CM000677.2:g.43601563_43601566del GRCh38
NC_000015.9:g.43893761_43893764del , CM000677.1:g.43893761_43893764del GRCh37
NC_000015.8:g.41681053_41681056del NCBI36
NG_011636.1:g.22237_22240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4546-13_4546-10del (STRC) MANE Select ENSP00000401513.2:n.4546-13_4546-10del
ENST00000411560.1:n.142+2030_142+2033del (CKMT1B)
ENST00000428650.5:c.*1579-13_*1579-10del (STRC) ENSP00000415991.1:n.*1579-13_*1579-10del
ENST00000440125.5:c.*2338-13_*2338-10del (STRC) ENSP00000394866.1:n.*2338-13_*2338-10del
ENST00000448437.6:n.1666-13_1666-10del (STRC)
ENST00000450892.6:c.4546-13_4546-10del (STRC) ENSP00000401513.2:n.4546-13_4546-10del
ENST00000460952.1:n.112_115del (STRC)
ENST00000471703.5:n.2500-13_2500-10del (STRC)
ENST00000485556.5:n.3401-13_3401-10del (STRC)
ENST00000493750.1:n.342-13_342-10del (STRC)
ENST00000541030.5:c.2227-13_2227-10del (STRC) ENSP00000440413.1:n.2227-13_2227-10del
NM_153700.2:c.4546-13_4546-10del (STRC) MANE Select NP_714544.1:n.4546-13_4546-10del
XM_011521277.1:c.5035-13_5035-10del (STRC) XP_011519579.1:n.5035-13_5035-10del
XM_011521278.1:c.4651-13_4651-10del (STRC) XP_011519580.1:n.4651-13_4651-10del
XM_011521279.1:c.4651-13_4651-10del (STRC) XP_011519581.1:n.4651-13_4651-10del