Canonical Allele Identifier: CA251009

Gene: CASK

Linked Data

• ClinVar Variation Id: 158066
• ClinVar RCV Id: RCV000145394
• dbSNP Id: rs587783357
• MyVariant Identifiers: chrX:g.41420835_41420836del (hg19) ; chrX:g.41561582_41561583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41561582_41561583del , CM000685.2:g.41561582_41561583del	GRCh38
NC_000023.10:g.41420835_41420836del , CM000685.1:g.41420835_41420836del	GRCh37
NC_000023.9:g.41305779_41305780del	NCBI36
NG_016754.1:g.366452_366453del
NG_016754.2:g.366452_366453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1644_1645del	ENSP00000367396.2:p.Val549GlyfsTer8
ENST00000378158.6:c.1626_1627del	ENSP00000367400.2:p.Val543GlyfsTer8
ENST00000378163.7:c.1644_1645del MANE Select	ENSP00000367405.1:p.Val549GlyfsTer8
ENST00000378166.9:c.1626_1627del	ENSP00000367408.5:p.Val543GlyfsTer8
ENST00000378168.8:c.1662_1663del	ENSP00000367410.4:p.Val555GlyfsTer8
ENST00000378179.9:c.333_334del	ENSP00000367421.4:p.Val112GlyfsTer8
ENST00000421587.8:c.1644_1645del	ENSP00000400526.4:p.Val549GlyfsTer8
ENST00000442742.7:c.1626_1627del	ENSP00000398007.3:p.Val543GlyfsTer8
ENST00000472704.3:n.255_256del
ENST00000642584.1:n.1300_1301del
ENST00000643043.2:c.1089_1090del	ENSP00000493518.2:p.Val364GlyfsTer8
ENST00000644219.1:c.1626_1627del	ENSP00000495357.1:p.Val543GlyfsTer8
ENST00000644347.1:c.1626_1627del	ENSP00000494183.1:p.Val543GlyfsTer8
ENST00000645566.1:c.1644_1645del	ENSP00000494788.1:p.Val549GlyfsTer8
ENST00000645937.2:n.1944_1945del
ENST00000645986.2:c.1626_1627del	ENSP00000494409.2:p.Val543GlyfsTer8
ENST00000646087.2:c.1071_1072del	ENSP00000495510.2:p.Val358GlyfsTer8
ENST00000646120.2:c.1644_1645del	ENSP00000495291.2:p.Val549GlyfsTer8
ENST00000675354.1:c.1662_1663del	ENSP00000502315.1:p.Val555GlyfsTer8
ENST00000378154.1:c.1644_1645del	ENSP00000367396.1:p.Val549GlyfsTer8
ENST00000378158.5:c.1644_1645del	ENSP00000367400.1:p.Val549GlyfsTer8
ENST00000378163.5:c.1644_1645del	ENSP00000367405.1:p.Val549GlyfsTer8
ENST00000378166.8:c.1644_1645del	ENSP00000367408.4:p.Val549GlyfsTer8
ENST00000378168.6:c.45_46del	ENSP00000367410.2:p.Val16GlyfsTer8
ENST00000378179.7:c.489_490del	ENSP00000367421.3:p.Val164GlyfsTer8
ENST00000421587.6:c.1626_1627del	ENSP00000400526.2:p.Val543GlyfsTer8
ENST00000442742.6:c.1644_1645del	ENSP00000398007.2:p.Val549GlyfsTer8
ENST00000472704.1:n.255_256del
NM_001126054.2:c.1644_1645del	NP_001119526.1:p.Val549GlyfsTer8
NM_001126055.2:c.1626_1627del	NP_001119527.1:p.Val543GlyfsTer8
NM_003688.3:c.1644_1645del	NP_003679.2:p.Val549GlyfsTer8
XM_005272686.3:c.1626_1627del	XP_005272743.1:p.Val543GlyfsTer8
XM_006724566.2:c.1626_1627del	XP_006724629.1:p.Val543GlyfsTer8
XM_011543993.1:c.1644_1645del	XP_011542295.1:p.Val549GlyfsTer8
XM_011543994.1:c.1644_1645del	XP_011542296.1:p.Val549GlyfsTer8
XM_011543995.1:c.1644_1645del	XP_011542297.1:p.Val549GlyfsTer8
XM_011543996.1:c.1644_1645del	XP_011542298.1:p.Val549GlyfsTer8
XM_011543997.1:c.1071_1072del	XP_011542299.1:p.Val358GlyfsTer8
XM_005272686.4:c.1626_1627del	XP_005272743.1:p.Val543GlyfsTer8
XM_006724566.3:c.1626_1627del	XP_006724629.1:p.Val543GlyfsTer8
XM_011543993.2:c.1644_1645del	XP_011542295.1:p.Val549GlyfsTer8
XM_011543994.2:c.1644_1645del	XP_011542296.1:p.Val549GlyfsTer8
XM_011543995.2:c.1644_1645del	XP_011542297.1:p.Val549GlyfsTer8
XM_011543996.2:c.1644_1645del	XP_011542298.1:p.Val549GlyfsTer8
XM_011543997.3:c.1071_1072del	XP_011542299.1:p.Val358GlyfsTer8
XM_024452473.1:c.1071_1072del	XP_024308241.1:p.Val358GlyfsTer8
NM_001367721.1:c.1644_1645del MANE Select	NP_001354650.1:p.Val549GlyfsTer8