Canonical Allele Identifier: CA2953902522
Community Standard Title: NM_004614.5(TK2):c.267_268delinsAA (p.Arg90Ser)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66536981_66536982delinsTT , CM000678.2:g.66536981_66536982delinsTT GRCh38
NC_000016.9:g.66570884_66570885delinsTT , CM000678.1:g.66570884_66570885delinsTT GRCh37
NC_000016.8:g.65128385_65128386delinsTT NCBI36
NG_016862.1:g.18431_18432delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.267_268delinsAA MANE Select NP_004605.4:p.Arg90Ser
ENST00000544898.6:c.267_268delinsAA MANE Select ENSP00000440898.2:p.Arg90Ser
NM_001172643.1:c.174_175delinsAA NP_001166114.1:p.Arg59Ser
NM_001172644.1:c.192_193delinsAA NP_001166115.1:p.Arg65Ser
NM_001172644.2:c.192_193delinsAA NP_001166115.1:p.Arg65Ser
NM_001172645.1:c.231+4897_231+4898delinsAA NP_001166116.1:n.231+4897_231+4898delinsAA
NM_001172645.2:c.231+4897_231+4898delinsAA NP_001166116.1:n.231+4897_231+4898delinsAA
NM_001271934.1:c.120_121delinsAA NP_001258863.1:p.Arg41Ser
NM_001271934.2:c.120_121delinsAA NP_001258863.1:p.Arg41Ser
NM_001271935.1:c.174_175delinsAA NP_001258864.1:p.Arg59Ser
NM_001272050.1:c.-25_-24delinsAA NP_001258979.1:n.-25_-24delinsAA
NM_001272050.2:c.-25_-24delinsAA NP_001258979.1:n.-25_-24delinsAA
NM_004614.4:c.267_268delinsAA NP_004605.4:p.Arg90Ser
NR_073520.1:n.1546_1547delinsAA
NR_073520.2:n.1256_1257delinsAA
ENST00000299697.11:c.267_268delinsAA ENSP00000299697.8:p.Arg90Ser
ENST00000299697.12:c.99_100delinsAA ENSP00000299697.9:p.Arg34Ser
ENST00000417693.7:c.357+4897_357+4898delinsAA ENSP00000407469.4:n.357+4897_357+4898delinsAA
ENST00000417693.8:c.231+4897_231+4898delinsAA ENSP00000407469.5:n.231+4897_231+4898delinsAA
ENST00000451102.6:c.393_394delinsAA ENSP00000414334.3:p.Arg132Ser
ENST00000451102.7:c.174_175delinsAA ENSP00000414334.4:p.Arg59Ser
ENST00000525974.5:c.-25_-24delinsAA ENSP00000434594.1:n.-25_-24delinsAA
ENST00000527284.5:c.174_175delinsAA ENSP00000435312.1:p.Arg59Ser
ENST00000527284.6:c.211_212delinsAA
ENST00000527800.5:c.-25_-24delinsAA ENSP00000433770.1:n.-25_-24delinsAA
ENST00000527800.6:c.-25_-24delinsAA ENSP00000433770.1:n.-25_-24delinsAA
ENST00000544898.5:c.267_268delinsAA ENSP00000440898.2:p.Arg90Ser
ENST00000545043.6:c.192_193delinsAA ENSP00000438143.2:p.Arg65Ser
ENST00000562484.2:c.-25_-24delinsAA ENSP00000463326.1:n.-25_-24delinsAA
ENST00000563369.6:c.-25_-24delinsAA ENSP00000463560.1:n.-25_-24delinsAA
ENST00000563478.5:c.-25_-24delinsAA ENSP00000462341.1:n.-25_-24delinsAA
ENST00000564917.5:c.267_268delinsAA ENSP00000455187.1:p.Arg90Ser
ENST00000567357.5:c.*125_*126delinsAA ENSP00000457959.1:n.*125_*126delinsAA
ENST00000567357.6:c.*125_*126delinsAA ENSP00000457959.2:n.*125_*126delinsAA
ENST00000569718.5:c.161_162delinsAA
ENST00000569718.6:c.174_175delinsAA ENSP00000464313.2:p.Arg59Ser
ENST00000620035.4:c.231+4897_231+4898delinsAA ENSP00000483833.1:n.231+4897_231+4898delinsAA
ENST00000620035.5:c.192_193delinsAA ENSP00000483833.2:p.Arg65Ser
ENST00000676536.1:c.223_224delinsAA
ENST00000676538.1:c.32+11996_32+11997delinsAA
ENST00000677420.1:c.-7+4897_-7+4898delinsAA ENSP00000504648.1:n.-7+4897_-7+4898delinsAA
ENST00000677497.1:n.36_37delinsAA
ENST00000677541.1:c.260_261delinsAA
ENST00000677555.1:c.-25_-24delinsAA ENSP00000503331.1:n.-25_-24delinsAA
ENST00000677715.1:c.-25_-24delinsAA ENSP00000502950.1:n.-25_-24delinsAA
ENST00000677739.1:c.36_37delinsAA ENSP00000504644.1:p.Arg13Ser
ENST00000678015.1:c.-25_-24delinsAA ENSP00000502959.1:n.-25_-24delinsAA
ENST00000678297.1:c.-25_-24delinsAA ENSP00000503472.1:n.-25_-24delinsAA
ENST00000678314.1:c.-25_-24delinsAA ENSP00000504438.1:n.-25_-24delinsAA
ENST00000678746.1:c.36_37delinsAA ENSP00000503227.1:p.Arg13Ser
ENST00000678864.1:n.131_132delinsAA
ENST00000679154.1:c.33-5513_33-5512delinsAA