Canonical Allele Identifier: CA563574216

Gene: CAMK2A

Linked Data

• dbSNP Id: rs1403027581
• gnomAD v2: 5-149636202-A-AGAACAAAAAG
• MyVariant Identifiers: chr5:g.149636202_149636203insGAACAAAAAG (hg19) ; chr5:g.150256639_150256640insGAACAAAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150256639_150256640insGAACAAAAAG , CM000667.2:g.150256639_150256640insGAACAAAAAG	GRCh38
NC_000005.9:g.149636202_149636203insGAACAAAAAG , CM000667.1:g.149636202_149636203insGAACAAAAAG	GRCh37
NC_000005.8:g.149616395_149616396insGAACAAAAAG	NCBI36
NG_047040.1:g.38201_38202insCTTTTTGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348628.11:c.344_345insCTTTTTGTTC	ENSP00000261793.8:p.Ile116PhefsTer27
ENST00000515758.2:n.508_509insCTTTTTGTTC
ENST00000672404.2:n.508_509insCTTTTTGTTC
ENST00000682786.1:c.344_345insCTTTTTGTTC	ENSP00000507199.1:p.Ile116PhefsTer27
ENST00000683115.1:n.508_509insCTTTTTGTTC
ENST00000683332.1:c.284_285insCTTTTTGTTC	ENSP00000507006.1:p.Ile96PhefsTer27
ENST00000683506.1:c.344_345insCTTTTTGTTC	ENSP00000508302.1:p.Ile116PhefsTer?
ENST00000684093.1:n.502_503insCTTTTTGTTC
ENST00000684465.1:n.444_445insCTTTTTGTTC
ENST00000398376.8:c.344_345insCTTTTTGTTC	ENSP00000381412.4:p.Ile116PhefsTer27
ENST00000510347.2:c.344_345insCTTTTTGTTC	ENSP00000426607.2:p.Ile116PhefsTer27
ENST00000671881.1:c.344_345insCTTTTTGTTC MANE Select	ENSP00000500386.1:p.Ile116PhefsTer27
ENST00000672089.1:c.344_345insCTTTTTGTTC	ENSP00000500700.1:p.Ile116PhefsTer27
ENST00000672396.1:c.344_345insCTTTTTGTTC	ENSP00000499987.1:p.Ile116PhefsTer27
ENST00000672404.1:c.189_190insCTTTTTGTTC
ENST00000672479.1:c.344_345insCTTTTTGTTC	ENSP00000500642.1:p.Ile116PhefsTer27
ENST00000672752.1:c.344_345insCTTTTTGTTC	ENSP00000499939.1:p.Ile116PhefsTer27
ENST00000672785.1:c.344_345insCTTTTTGTTC	ENSP00000500496.1:p.Ile116PhefsTer27
ENST00000672829.1:c.344_345insCTTTTTGTTC	ENSP00000500613.1:p.Ile116PhefsTer27
ENST00000348628.10:c.344_345insCTTTTTGTTC	ENSP00000261793.8:p.Ile116PhefsTer27
ENST00000398376.7:c.344_345insCTTTTTGTTC	ENSP00000381412.3:p.Ile116PhefsTer27
ENST00000508662.5:n.432_433insCTTTTTGTTC
ENST00000515758.1:c.-41_-40insCTTTTTGTTC	ENSP00000427580.1:n.-41_-40insCTTTTTGTTC
NM_015981.3:c.344_345insCTTTTTGTTC	NP_057065.2:p.Ile116PhefsTer27
NM_171825.2:c.344_345insCTTTTTGTTC	NP_741960.1:p.Ile116PhefsTer27
NM_001363989.1:c.344_345insCTTTTTGTTC	NP_001350918.1:p.Ile116PhefsTer27
NM_001363990.1:c.344_345insCTTTTTGTTC	NP_001350919.1:p.Ile116PhefsTer27
XM_017009898.2:c.344_345insCTTTTTGTTC	XP_016865387.1:p.Ile116PhefsTer27
NM_001369025.2:c.344_345insCTTTTTGTTC	NP_001355954.1:p.Ile116PhefsTer27
NM_015981.4:c.344_345insCTTTTTGTTC MANE Select	NP_057065.2:p.Ile116PhefsTer27
NM_171825.3:c.344_345insCTTTTTGTTC	NP_741960.1:p.Ile116PhefsTer27