Canonical Allele Identifier: CA641573749

Gene: CASK

Linked Data

• dbSNP Id: rs1279293317
• gnomAD v2: X-41420453-AAG-A
• gnomAD v3: X-41561200-AAG-A
• gnomAD v4: X-41561200-AAG-A
• MyVariant Identifiers: chrX:g.41420454_41420455del (hg19) ; chrX:g.41561201_41561202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41561203_41561204del , CM000685.2:g.41561203_41561204del	GRCh38
NC_000023.10:g.41420456_41420457del , CM000685.1:g.41420456_41420457del	GRCh37
NC_000023.9:g.41305400_41305401del	NCBI36
NG_016754.1:g.366833_366834del
NG_016754.2:g.366833_366834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1668+357_1668+358del	ENSP00000367396.2:n.1668+357_1668+358del
ENST00000378158.6:c.1650+357_1650+358del	ENSP00000367400.2:n.1650+357_1650+358del
ENST00000378163.7:c.1668+357_1668+358del MANE Select	ENSP00000367405.1:n.1668+357_1668+358del
ENST00000378166.9:c.1650+357_1650+358del	ENSP00000367408.5:n.1650+357_1650+358del
ENST00000378168.8:c.1686+357_1686+358del	ENSP00000367410.4:n.1686+357_1686+358del
ENST00000378179.9:c.357+357_357+358del	ENSP00000367421.4:n.357+357_357+358del
ENST00000421587.8:c.1668+357_1668+358del	ENSP00000400526.4:n.1668+357_1668+358del
ENST00000442742.7:c.1650+357_1650+358del	ENSP00000398007.3:n.1650+357_1650+358del
ENST00000472704.3:n.279+357_279+358del
ENST00000642584.1:n.1324+357_1324+358del
ENST00000643043.2:c.1113+357_1113+358del	ENSP00000493518.2:n.1113+357_1113+358del
ENST00000644219.1:c.1650+357_1650+358del	ENSP00000495357.1:n.1650+357_1650+358del
ENST00000644347.1:c.1650+357_1650+358del	ENSP00000494183.1:n.1650+357_1650+358del
ENST00000645566.1:c.1668+357_1668+358del	ENSP00000494788.1:n.1668+357_1668+358del
ENST00000645937.2:n.1968+357_1968+358del
ENST00000645986.2:c.1650+357_1650+358del	ENSP00000494409.2:n.1650+357_1650+358del
ENST00000646087.2:c.1095+357_1095+358del	ENSP00000495510.2:n.1095+357_1095+358del
ENST00000646120.2:c.1668+357_1668+358del	ENSP00000495291.2:n.1668+357_1668+358del
ENST00000675354.1:c.1686+357_1686+358del	ENSP00000502315.1:n.1686+357_1686+358del
ENST00000378154.1:c.1668+357_1668+358del	ENSP00000367396.1:n.1668+357_1668+358del
ENST00000378158.5:c.1668+357_1668+358del	ENSP00000367400.1:n.1668+357_1668+358del
ENST00000378163.5:c.1668+357_1668+358del	ENSP00000367405.1:n.1668+357_1668+358del
ENST00000378166.8:c.1668+357_1668+358del	ENSP00000367408.4:n.1668+357_1668+358del
ENST00000378168.6:c.69+357_69+358del	ENSP00000367410.2:n.69+357_69+358del
ENST00000378179.7:c.513+357_513+358del	ENSP00000367421.3:n.513+357_513+358del
ENST00000421587.6:c.1650+357_1650+358del	ENSP00000400526.2:n.1650+357_1650+358del
ENST00000442742.6:c.1668+357_1668+358del	ENSP00000398007.2:n.1668+357_1668+358del
ENST00000472704.1:n.279+357_279+358del
NM_001126054.2:c.1668+357_1668+358del	NP_001119526.1:n.1668+357_1668+358del
NM_001126055.2:c.1650+357_1650+358del	NP_001119527.1:n.1650+357_1650+358del
NM_003688.3:c.1668+357_1668+358del	NP_003679.2:n.1668+357_1668+358del
XM_005272686.3:c.1650+357_1650+358del	XP_005272743.1:n.1650+357_1650+358del
XM_006724566.2:c.1650+357_1650+358del	XP_006724629.1:n.1650+357_1650+358del
XM_011543993.1:c.1668+357_1668+358del	XP_011542295.1:n.1668+357_1668+358del
XM_011543994.1:c.1668+357_1668+358del	XP_011542296.1:n.1668+357_1668+358del
XM_011543995.1:c.1668+357_1668+358del	XP_011542297.1:n.1668+357_1668+358del
XM_011543996.1:c.1668+357_1668+358del	XP_011542298.1:n.1668+357_1668+358del
XM_011543997.1:c.1095+357_1095+358del	XP_011542299.1:n.1095+357_1095+358del
XM_005272686.4:c.1650+357_1650+358del	XP_005272743.1:n.1650+357_1650+358del
XM_006724566.3:c.1650+357_1650+358del	XP_006724629.1:n.1650+357_1650+358del
XM_011543993.2:c.1668+357_1668+358del	XP_011542295.1:n.1668+357_1668+358del
XM_011543994.2:c.1668+357_1668+358del	XP_011542296.1:n.1668+357_1668+358del
XM_011543995.2:c.1668+357_1668+358del	XP_011542297.1:n.1668+357_1668+358del
XM_011543996.2:c.1668+357_1668+358del	XP_011542298.1:n.1668+357_1668+358del
XM_011543997.3:c.1095+357_1095+358del	XP_011542299.1:n.1095+357_1095+358del
XM_024452473.1:c.1095+357_1095+358del	XP_024308241.1:n.1095+357_1095+358del
NM_001367721.1:c.1668+357_1668+358del MANE Select	NP_001354650.1:n.1668+357_1668+358del