Canonical Allele Identifier: CA2580617002
Gene: CASK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41520424_41520425insTA , CM000685.2:g.41520424_41520425insTA GRCh38
NC_000023.10:g.41379677_41379678insTA , CM000685.1:g.41379677_41379678insTA GRCh37
NC_000023.9:g.41264621_41264622insTA NCBI36
NG_016754.1:g.407610_407611insTA
NG_016754.2:g.407610_407611insTA

Transcript Alleles

HGVS Amino-acid Change
NM_001367721.1:c.2776_2777insTA MANE Select NP_001354650.1:p.Tyr926LeufsTer?
ENST00000378163.7:c.2776_2777insTA MANE Select ENSP00000367405.1:p.Tyr926LeufsTer?
NM_001126054.2:c.2692_2693insTA NP_001119526.1:p.Tyr898LeufsTer?
NM_001126055.2:c.2689_2690insTA NP_001119527.1:p.Tyr897LeufsTer?
NM_003688.3:c.2761_2762insTA NP_003679.2:p.Tyr921LeufsTer?
ENST00000378154.3:c.2725_2726insTA ENSP00000367396.2:p.Tyr909LeufsTer?
ENST00000378158.5:c.2725_2726insTA ENSP00000367400.1:p.Tyr909LeufsTer?
ENST00000378158.6:c.2722_2723insTA ENSP00000367400.2:p.Tyr908LeufsTer?
ENST00000378163.5:c.2776_2777insTA ENSP00000367405.1:p.Tyr926LeufsTer?
ENST00000378166.8:c.2761_2762insTA ENSP00000367408.4:p.Tyr921LeufsTer?
ENST00000378166.9:c.2674_2675insTA ENSP00000367408.5:p.Tyr892LeufsTer?
ENST00000378168.6:c.1141_1142insTA ENSP00000367410.2:p.Tyr381LeufsTer?
ENST00000378168.8:c.2779_2780insTA ENSP00000367410.4:p.Tyr927LeufsTer?
ENST00000378179.7:c.1552_1553insTA ENSP00000367421.3:p.Tyr518LeufsTer?
ENST00000378179.9:c.1396_1397insTA ENSP00000367421.4:p.Tyr466LeufsTer?
ENST00000421587.6:c.2689_2690insTA ENSP00000400526.2:p.Tyr897LeufsTer?
ENST00000421587.8:c.2707_2708insTA ENSP00000400526.4:p.Tyr903LeufsTer?
ENST00000442742.6:c.2692_2693insTA ENSP00000398007.2:p.Tyr898LeufsTer?
ENST00000442742.7:c.2638_2639insTA ENSP00000398007.3:p.Tyr880LeufsTer?
ENST00000642499.1:n.1555_1556insTA
ENST00000642641.1:n.935_936insTA
ENST00000643733.1:c.575_576insTA
ENST00000644219.1:c.2758_2759insTA ENSP00000495357.1:p.Tyr920LeufsTer?
ENST00000644347.1:c.2689_2690insTA ENSP00000494183.1:p.Tyr897LeufsTer?
ENST00000645566.1:c.2761_2762insTA ENSP00000494788.1:p.Tyr921LeufsTer?
ENST00000645937.2:n.3007_3008insTA
ENST00000645986.2:c.2863_2864insTA ENSP00000494409.2:p.Tyr955LeufsTer?
ENST00000646087.2:c.2098_2099insTA ENSP00000495510.2:p.Tyr700LeufsTer?
ENST00000646120.2:c.2692_2693insTA ENSP00000495291.2:p.Tyr898LeufsTer?
ENST00000675354.1:c.2710_2711insTA ENSP00000502315.1:p.Tyr904LeufsTer?
XM_005272686.3:c.2758_2759insTA XP_005272743.1:p.Tyr920LeufsTer?
XM_005272686.4:c.2758_2759insTA XP_005272743.1:p.Tyr920LeufsTer?
XM_006724566.2:c.2653_2654insTA XP_006724629.1:p.Tyr885LeufsTer?
XM_006724566.3:c.2653_2654insTA XP_006724629.1:p.Tyr885LeufsTer?
XM_011543993.1:c.2776_2777insTA XP_011542295.1:p.Tyr926LeufsTer?
XM_011543993.2:c.2776_2777insTA XP_011542295.1:p.Tyr926LeufsTer?
XM_011543994.1:c.2740_2741insTA XP_011542296.1:p.Tyr914LeufsTer?
XM_011543994.2:c.2740_2741insTA XP_011542296.1:p.Tyr914LeufsTer?
XM_011543995.1:c.2707_2708insTA XP_011542297.1:p.Tyr903LeufsTer?
XM_011543995.2:c.2707_2708insTA XP_011542297.1:p.Tyr903LeufsTer?
XM_011543996.1:c.2671_2672insTA XP_011542298.1:p.Tyr891LeufsTer?
XM_011543996.2:c.2671_2672insTA XP_011542298.1:p.Tyr891LeufsTer?
XM_011543997.1:c.2203_2204insTA XP_011542299.1:p.Tyr735LeufsTer?
XM_011543997.3:c.2203_2204insTA XP_011542299.1:p.Tyr735LeufsTer?
XM_024452473.1:c.2098_2099insTA XP_024308241.1:p.Tyr700LeufsTer?