Canonical Allele Identifier: CA2425947679

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531042G= , CM000685.2:g.41531042G=	GRCh38
NC_000023.10:g.41390295G= , CM000685.1:g.41390295G=	GRCh37
NC_000023.9:g.41275239G=	NCBI36
NG_016754.1:g.396993C=
NG_016754.2:g.396993C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2434C=	ENSP00000367396.2:p.Gln812=
ENST00000378158.6:c.2431C=	ENSP00000367400.2:p.Gln811=
ENST00000378163.7:c.2485C= MANE Select	ENSP00000367405.1:p.Gln829=
ENST00000378166.9:c.2383C=	ENSP00000367408.5:p.Gln795=
ENST00000378168.8:c.2488C=	ENSP00000367410.4:p.Gln830=
ENST00000378179.9:c.1105C=	ENSP00000367421.4:p.Gln369=
ENST00000421587.8:c.2416C=	ENSP00000400526.4:p.Gln806=
ENST00000442742.7:c.2347C=	ENSP00000398007.3:p.Gln783=
ENST00000642499.1:n.1264C=
ENST00000643733.1:c.257C=
ENST00000644219.1:c.2467C=	ENSP00000495357.1:p.Gln823=
ENST00000644347.1:c.2398C=	ENSP00000494183.1:p.Gln800=
ENST00000645566.1:c.2470C=	ENSP00000494788.1:p.Gln824=
ENST00000645937.2:n.2716C=
ENST00000645986.2:c.2452C=	ENSP00000494409.2:p.Gln818=
ENST00000646087.2:c.1807C=	ENSP00000495510.2:p.Gln603=
ENST00000646120.2:c.2401C=	ENSP00000495291.2:p.Gln801=
ENST00000675354.1:c.2419C=	ENSP00000502315.1:p.Gln807=
ENST00000378158.5:c.2434C=	ENSP00000367400.1:p.Gln812=
ENST00000378163.5:c.2485C=	ENSP00000367405.1:p.Gln829=
ENST00000378166.8:c.2470C=	ENSP00000367408.4:p.Gln824=
ENST00000378168.6:c.850C=	ENSP00000367410.2:p.Gln284=
ENST00000378179.7:c.1261C=	ENSP00000367421.3:p.Gln421=
ENST00000421587.6:c.2398C=	ENSP00000400526.2:p.Gln800=
ENST00000442742.6:c.2401C=	ENSP00000398007.2:p.Gln801=
NM_001126054.2:c.2401C=	NP_001119526.1:p.Gln801=
NM_001126055.2:c.2398C=	NP_001119527.1:p.Gln800=
NM_003688.3:c.2470C=	NP_003679.2:p.Gln824=
XM_005272686.3:c.2467C=	XP_005272743.1:p.Gln823=
XM_006724566.2:c.2362C=	XP_006724629.1:p.Gln788=
XM_011543993.1:c.2485C=	XP_011542295.1:p.Gln829=
XM_011543994.1:c.2449C=	XP_011542296.1:p.Gln817=
XM_011543995.1:c.2416C=	XP_011542297.1:p.Gln806=
XM_011543996.1:c.2380C=	XP_011542298.1:p.Gln794=
XM_011543997.1:c.1912C=	XP_011542299.1:p.Gln638=
XM_005272686.4:c.2467C=	XP_005272743.1:p.Gln823=
XM_006724566.3:c.2362C=	XP_006724629.1:p.Gln788=
XM_011543993.2:c.2485C=	XP_011542295.1:p.Gln829=
XM_011543994.2:c.2449C=	XP_011542296.1:p.Gln817=
XM_011543995.2:c.2416C=	XP_011542297.1:p.Gln806=
XM_011543996.2:c.2380C=	XP_011542298.1:p.Gln794=
XM_011543997.3:c.1912C=	XP_011542299.1:p.Gln638=
XM_024452473.1:c.1807C=	XP_024308241.1:p.Gln603=
NM_001367721.1:c.2485C= MANE Select	NP_001354650.1:p.Gln829=