Canonical Allele Identifier: CA2580100881

Gene: CASK

Linked Data

• ClinVar Variation Id: 2429865
• ClinVar RCV Id: RCV003127304

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41660474_41660476delinsCT , CM000685.2:g.41660474_41660476delinsCT	GRCh38
NC_000023.10:g.41519727_41519729delinsCT , CM000685.1:g.41519727_41519729delinsCT	GRCh37
NC_000023.9:g.41404671_41404673delinsCT	NCBI36
NG_016754.1:g.267559_267561delinsAG
NG_016754.2:g.267559_267561delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.794_796delinsAG	ENSP00000367396.2:p.Ile265LysfsTer7
ENST00000378158.6:c.794_796delinsAG	ENSP00000367400.2:p.Ile265LysfsTer7
ENST00000378163.7:c.794_796delinsAG MANE Select	ENSP00000367405.1:p.Ile265LysfsTer7
ENST00000378166.9:c.794_796delinsAG	ENSP00000367408.5:p.Ile265LysfsTer7
ENST00000378168.8:c.812_814delinsAG	ENSP00000367410.4:p.Ile271LysfsTer7
ENST00000421587.8:c.812_814delinsAG	ENSP00000400526.4:p.Ile271LysfsTer7
ENST00000442742.7:c.794_796delinsAG	ENSP00000398007.3:p.Ile265LysfsTer7
ENST00000643043.2:c.239_241delinsAG	ENSP00000493518.2:p.Ile80LysfsTer7
ENST00000643831.2:c.794_796delinsAG	ENSP00000494388.2:p.Ile265LysfsTer7
ENST00000643853.1:n.508_510delinsAG
ENST00000644219.1:c.794_796delinsAG	ENSP00000495357.1:p.Ile265LysfsTer7
ENST00000644347.1:c.794_796delinsAG	ENSP00000494183.1:p.Ile265LysfsTer7
ENST00000645566.1:c.794_796delinsAG	ENSP00000494788.1:p.Ile265LysfsTer7
ENST00000645986.2:c.794_796delinsAG	ENSP00000494409.2:p.Ile265LysfsTer7
ENST00000646087.2:c.239_241delinsAG	ENSP00000495510.2:p.Ile80LysfsTer7
ENST00000646120.2:c.794_796delinsAG	ENSP00000495291.2:p.Ile265LysfsTer7
ENST00000647118.2:c.*481_*483delinsAG	ENSP00000493700.1:n.*481_*483delinsAG
ENST00000675354.1:c.812_814delinsAG	ENSP00000502315.1:p.Ile271LysfsTer7
ENST00000378154.1:c.794_796delinsAG	ENSP00000367396.1:p.Ile265LysfsTer7
ENST00000378158.5:c.794_796delinsAG	ENSP00000367400.1:p.Ile265LysfsTer7
ENST00000378163.5:c.794_796delinsAG	ENSP00000367405.1:p.Ile265LysfsTer7
ENST00000378166.8:c.794_796delinsAG	ENSP00000367408.4:p.Ile265LysfsTer7
ENST00000421587.6:c.794_796delinsAG	ENSP00000400526.2:p.Ile265LysfsTer7
ENST00000442742.6:c.794_796delinsAG	ENSP00000398007.2:p.Ile265LysfsTer7
ENST00000469265.1:n.241_243delinsAG
ENST00000486402.1:n.358_360delinsAG
NM_001126054.2:c.794_796delinsAG	NP_001119526.1:p.Ile265LysfsTer7
NM_001126055.2:c.794_796delinsAG	NP_001119527.1:p.Ile265LysfsTer7
NM_003688.3:c.794_796delinsAG	NP_003679.2:p.Ile265LysfsTer7
XM_005272686.3:c.794_796delinsAG	XP_005272743.1:p.Ile265LysfsTer7
XM_006724566.2:c.794_796delinsAG	XP_006724629.1:p.Ile265LysfsTer7
XM_011543993.1:c.812_814delinsAG	XP_011542295.1:p.Ile271LysfsTer7
XM_011543994.1:c.812_814delinsAG	XP_011542296.1:p.Ile271LysfsTer7
XM_011543995.1:c.812_814delinsAG	XP_011542297.1:p.Ile271LysfsTer7
XM_011543996.1:c.812_814delinsAG	XP_011542298.1:p.Ile271LysfsTer7
XM_011543997.1:c.239_241delinsAG	XP_011542299.1:p.Ile80LysfsTer7
XM_005272686.4:c.794_796delinsAG	XP_005272743.1:p.Ile265LysfsTer7
XM_006724566.3:c.794_796delinsAG	XP_006724629.1:p.Ile265LysfsTer7
XM_011543993.2:c.812_814delinsAG	XP_011542295.1:p.Ile271LysfsTer7
XM_011543994.2:c.812_814delinsAG	XP_011542296.1:p.Ile271LysfsTer7
XM_011543995.2:c.812_814delinsAG	XP_011542297.1:p.Ile271LysfsTer7
XM_011543996.2:c.812_814delinsAG	XP_011542298.1:p.Ile271LysfsTer7
XM_011543997.3:c.239_241delinsAG	XP_011542299.1:p.Ile80LysfsTer7
XM_024452473.1:c.239_241delinsAG	XP_024308241.1:p.Ile80LysfsTer7
NM_001367721.1:c.794_796delinsAG MANE Select	NP_001354650.1:p.Ile265LysfsTer7