Canonical Allele Identifier: CA490145478

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601536_43601537insC , CM000677.2:g.43601536_43601537insC GRCh38
NC_000015.9:g.43893734_43893735insC , CM000677.1:g.43893734_43893735insC GRCh37
NC_000015.8:g.41681026_41681027insC NCBI36
NG_011636.1:g.22264_22265insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4560_4561insG (STRC) MANE Select ENSP00000401513.2:p.Arg1521AlafsTer6
ENST00000411560.1:n.142+2003_142+2004insC (CKMT1B)
ENST00000428650.5:c.*1593_*1594insG (STRC) ENSP00000415991.1:n.*1593_*1594insG
ENST00000440125.5:c.*2352_*2353insG (STRC) ENSP00000394866.1:n.*2352_*2353insG
ENST00000448437.6:n.1680_1681insG (STRC)
ENST00000450892.6:c.4560_4561insG (STRC) ENSP00000401513.2:p.Arg1521AlafsTer6
ENST00000460952.1:n.139_140insG (STRC)
ENST00000471703.5:n.2514_2515insG (STRC)
ENST00000485556.5:n.3415_3416insG (STRC)
ENST00000493750.1:n.356_357insG (STRC)
ENST00000541030.5:c.2241_2242insG (STRC) ENSP00000440413.1:p.Arg748AlafsTer6
NM_153700.2:c.4560_4561insG (STRC) MANE Select NP_714544.1:p.Arg1521AlafsTer6
XM_011521277.1:c.5049_5050insG (STRC) XP_011519579.1:p.Arg1684AlafsTer6
XM_011521278.1:c.4665_4666insG (STRC) XP_011519580.1:p.Arg1556AlafsTer6
XM_011521279.1:c.4665_4666insG (STRC) XP_011519581.1:p.Arg1556AlafsTer6