Canonical Allele Identifier: CA10390145

Gene: CASK

Linked Data

• ClinVar Variation Id: 470208
• ClinVar RCV Id: RCV000540173 ; RCV001088617 ; RCV001821563
• dbSNP Id: rs746809939
• ExAC: X:41419105 A / AG
• gnomAD v2: X-41419105-A-AG
• gnomAD v3: X-41559852-A-AG
• gnomAD v4: X-41559852-A-AG
• MyVariant Identifiers: chrX:g.41419106dup (hg19) ; chrX:g.41419106_41419107insG (hg19) ; chrX:g.41419105_41419106insG (hg19) ; chrX:g.41559853dup (hg38) ; chrX:g.41559852_41559853insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41559859dup , CM000685.2:g.41559859dup	GRCh38
NC_000023.10:g.41419112dup , CM000685.1:g.41419112dup	GRCh37
NC_000023.9:g.41304056dup	NCBI36
NG_016754.1:g.368182dup
NG_016754.2:g.368182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1669-6dup	ENSP00000367396.2:n.1669-6dup
ENST00000378158.6:c.1651-6dup	ENSP00000367400.2:n.1651-6dup
ENST00000378163.7:c.1669-6dup MANE Select	ENSP00000367405.1:n.1669-6dup
ENST00000378166.9:c.1651-6dup	ENSP00000367408.5:n.1651-6dup
ENST00000378168.8:c.1687-6dup	ENSP00000367410.4:n.1687-6dup
ENST00000378179.9:c.358-6dup	ENSP00000367421.4:n.358-6dup
ENST00000421587.8:c.1669-6dup	ENSP00000400526.4:n.1669-6dup
ENST00000442742.7:c.1651-6dup	ENSP00000398007.3:n.1651-6dup
ENST00000472704.3:n.280-6dup
ENST00000642584.1:n.1325-6dup
ENST00000643043.2:c.1114-6dup	ENSP00000493518.2:n.1114-6dup
ENST00000644219.1:c.1651-6dup	ENSP00000495357.1:n.1651-6dup
ENST00000644347.1:c.1651-6dup	ENSP00000494183.1:n.1651-6dup
ENST00000645566.1:c.1669-6dup	ENSP00000494788.1:n.1669-6dup
ENST00000645937.2:n.1969-6dup
ENST00000645986.2:c.1651-6dup	ENSP00000494409.2:n.1651-6dup
ENST00000646087.2:c.1096-6dup	ENSP00000495510.2:n.1096-6dup
ENST00000646120.2:c.1669-6dup	ENSP00000495291.2:n.1669-6dup
ENST00000675354.1:c.1687-6dup	ENSP00000502315.1:n.1687-6dup
ENST00000378154.1:c.1669-6dup	ENSP00000367396.1:n.1669-6dup
ENST00000378158.5:c.1669-6dup	ENSP00000367400.1:n.1669-6dup
ENST00000378163.5:c.1669-6dup	ENSP00000367405.1:n.1669-6dup
ENST00000378166.8:c.1669-6dup	ENSP00000367408.4:n.1669-6dup
ENST00000378168.6:c.70-6dup	ENSP00000367410.2:n.70-6dup
ENST00000378179.7:c.514-6dup	ENSP00000367421.3:n.514-6dup
ENST00000421587.6:c.1651-6dup	ENSP00000400526.2:n.1651-6dup
ENST00000442742.6:c.1669-6dup	ENSP00000398007.2:n.1669-6dup
ENST00000472704.1:n.280-6dup
NM_001126054.2:c.1669-6dup	NP_001119526.1:n.1669-6dup
NM_001126055.2:c.1651-6dup	NP_001119527.1:n.1651-6dup
NM_003688.3:c.1669-6dup	NP_003679.2:n.1669-6dup
XM_005272686.3:c.1651-6dup	XP_005272743.1:n.1651-6dup
XM_006724566.2:c.1651-6dup	XP_006724629.1:n.1651-6dup
XM_011543993.1:c.1669-6dup	XP_011542295.1:n.1669-6dup
XM_011543994.1:c.1669-6dup	XP_011542296.1:n.1669-6dup
XM_011543995.1:c.1669-6dup	XP_011542297.1:n.1669-6dup
XM_011543996.1:c.1669-6dup	XP_011542298.1:n.1669-6dup
XM_011543997.1:c.1096-6dup	XP_011542299.1:n.1096-6dup
XM_005272686.4:c.1651-6dup	XP_005272743.1:n.1651-6dup
XM_006724566.3:c.1651-6dup	XP_006724629.1:n.1651-6dup
XM_011543993.2:c.1669-6dup	XP_011542295.1:n.1669-6dup
XM_011543994.2:c.1669-6dup	XP_011542296.1:n.1669-6dup
XM_011543995.2:c.1669-6dup	XP_011542297.1:n.1669-6dup
XM_011543996.2:c.1669-6dup	XP_011542298.1:n.1669-6dup
XM_011543997.3:c.1096-6dup	XP_011542299.1:n.1096-6dup
XM_024452473.1:c.1096-6dup	XP_024308241.1:n.1096-6dup
NM_001367721.1:c.1669-6dup MANE Select	NP_001354650.1:n.1669-6dup