Canonical Allele Identifier: CA2628141867

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600987_43600994del , CM000677.2:g.43600987_43600994del GRCh38
NC_000015.9:g.43893185_43893192del , CM000677.1:g.43893185_43893192del GRCh37
NC_000015.8:g.41680477_41680484del NCBI36
NG_011636.1:g.22807_22814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4722_4729del (STRC) MANE Select ENSP00000401513.2:p.Ser1574ArgfsTer?
ENST00000411560.1:n.142+1454_142+1461del (CKMT1B)
ENST00000428650.5:c.*1755_*1762del (STRC) ENSP00000415991.1:n.*1755_*1762del
ENST00000440125.5:c.*2514_*2521del (STRC) ENSP00000394866.1:n.*2514_*2521del
ENST00000448437.6:n.1842_1849del (STRC)
ENST00000450892.6:c.4722_4729del (STRC) ENSP00000401513.2:p.Ser1574ArgfsTer?
ENST00000460952.1:n.301_308del (STRC)
ENST00000471703.5:n.2676_2683del (STRC)
ENST00000485556.5:n.3577_3584del (STRC)
ENST00000541030.5:c.2403_2410del (STRC) ENSP00000440413.1:p.Ser801ArgfsTer?
NM_153700.2:c.4722_4729del (STRC) MANE Select NP_714544.1:p.Ser1574ArgfsTer?
XM_011521277.1:c.5211_5218del (STRC) XP_011519579.1:p.Ser1737ArgfsTer?
XM_011521278.1:c.4827_4834del (STRC) XP_011519580.1:p.Ser1609ArgfsTer?
XM_011521279.1:c.4827_4834del (STRC) XP_011519581.1:p.Ser1609ArgfsTer?