Canonical Allele Identifier: CA2693502673

Gene: CASK

Linked Data

• gnomAD v4: X-41922878-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41922878C>A , CM000685.2:g.41922878C>A	GRCh38
NC_000023.10:g.41782131C>A , CM000685.1:g.41782131C>A	GRCh37
NC_000023.9:g.41667075C>A	NCBI36
NG_016754.1:g.5157G>T
NG_016754.2:g.5157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.59+52G>T	ENSP00000367396.2:n.59+52G>T
ENST00000378158.6:c.59+52G>T	ENSP00000367400.2:n.59+52G>T
ENST00000378163.7:c.59+52G>T MANE Select	ENSP00000367405.1:n.59+52G>T
ENST00000378166.9:c.59+52G>T	ENSP00000367408.5:n.59+52G>T
ENST00000378168.8:c.59+52G>T	ENSP00000367410.4:n.59+52G>T
ENST00000421587.8:c.59+52G>T	ENSP00000400526.4:n.59+52G>T
ENST00000442742.7:c.59+52G>T	ENSP00000398007.3:n.59+52G>T
ENST00000468986.7:n.18+52G>T
ENST00000643831.2:c.59+52G>T	ENSP00000494388.2:n.59+52G>T
ENST00000644219.1:c.59+52G>T	ENSP00000495357.1:n.59+52G>T
ENST00000644347.1:c.59+52G>T	ENSP00000494183.1:n.59+52G>T
ENST00000644770.1:c.59+52G>T	ENSP00000494144.1:n.59+52G>T
ENST00000645566.1:c.59+52G>T	ENSP00000494788.1:n.59+52G>T
ENST00000645986.2:c.59+52G>T	ENSP00000494409.2:n.59+52G>T
ENST00000646120.2:c.59+52G>T	ENSP00000495291.2:n.59+52G>T
ENST00000647118.2:c.59+52G>T	ENSP00000493700.1:n.59+52G>T
ENST00000675354.1:c.59+52G>T	ENSP00000502315.1:n.59+52G>T
ENST00000378154.1:c.59+52G>T	ENSP00000367396.1:n.59+52G>T
ENST00000378158.5:c.59+52G>T	ENSP00000367400.1:n.59+52G>T
ENST00000378163.5:c.59+52G>T	ENSP00000367405.1:n.59+52G>T
ENST00000378166.8:c.59+52G>T	ENSP00000367408.4:n.59+52G>T
ENST00000421587.6:c.59+52G>T	ENSP00000400526.2:n.59+52G>T
ENST00000442742.6:c.59+52G>T	ENSP00000398007.2:n.59+52G>T
ENST00000468986.6:n.86+52G>T
ENST00000477823.1:n.53+52G>T
NM_001126054.2:c.59+52G>T	NP_001119526.1:n.59+52G>T
NM_001126055.2:c.59+52G>T	NP_001119527.1:n.59+52G>T
NM_003688.3:c.59+52G>T	NP_003679.2:n.59+52G>T
XM_005272686.3:c.59+52G>T	XP_005272743.1:n.59+52G>T
XM_006724566.2:c.59+52G>T	XP_006724629.1:n.59+52G>T
XM_011543993.1:c.59+52G>T	XP_011542295.1:n.59+52G>T
XM_011543994.1:c.59+52G>T	XP_011542296.1:n.59+52G>T
XM_011543995.1:c.59+52G>T	XP_011542297.1:n.59+52G>T
XM_011543996.1:c.59+52G>T	XP_011542298.1:n.59+52G>T
XM_005272686.4:c.59+52G>T	XP_005272743.1:n.59+52G>T
XM_006724566.3:c.59+52G>T	XP_006724629.1:n.59+52G>T
XM_011543993.2:c.59+52G>T	XP_011542295.1:n.59+52G>T
XM_011543994.2:c.59+52G>T	XP_011542296.1:n.59+52G>T
XM_011543995.2:c.59+52G>T	XP_011542297.1:n.59+52G>T
XM_011543996.2:c.59+52G>T	XP_011542298.1:n.59+52G>T
NM_001367721.1:c.59+52G>T MANE Select	NP_001354650.1:n.59+52G>T