Canonical Allele Identifier: CA1704042085

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038353_45038355delinsCTG , CM000669.2:g.45038353_45038355delinsCTG	GRCh38
NC_000007.13:g.45077952_45077954delinsCTG , CM000669.1:g.45077952_45077954delinsCTG	GRCh37
NC_000007.12:g.45044477_45044479delinsCTG	NCBI36
NG_016295.1:g.43166_43168delinsCTG , LRG_664:g.43166_43168delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.131_133delinsCTG MANE Select	ENSP00000258781.7:p.Thr44=
ENST00000648329.1:c.131_133delinsCTG	ENSP00000496916.1:p.Thr44=
ENST00000258781.10:c.131_133delinsCTG	ENSP00000258781.6:p.Thr44=
ENST00000381112.7:c.194_196delinsCTG	ENSP00000370503.3:p.Thr65=
ENST00000461377.5:n.484_486delinsCTG
ENST00000472223.5:n.198_200delinsCTG
ENST00000474617.1:c.113_115delinsCTG	ENSP00000419474.1:p.Thr38=
ENST00000475551.5:c.113_115delinsCTG	ENSP00000417180.1:p.Thr38=
ENST00000476594.1:n.93_95delinsCTG
ENST00000478169.5:n.353_355delinsCTG
ENST00000478582.5:n.342_344delinsCTG
ENST00000480658.5:n.227_229delinsCTG
ENST00000482714.5:n.126+10556_126+10558delinsCTG
ENST00000488727.5:c.131_133delinsCTG	ENSP00000417251.1:p.Thr44=
ENST00000492883.5:n.227_229delinsCTG
ENST00000541586.5:c.31-25565_31-25563delinsCTG	ENSP00000444725.1:n.31-25565_31-25563deli...
ENST00000544363.5:c.131_133delinsCTG	ENSP00000438035.1:p.Thr44=
NM_001029835.2:c.194_196delinsCTG , LRG_664t1:c.194_196delinsCTG	NP_001025006.1:p.Thr65=
NM_001167934.1:c.31-25565_31-25563delinsCTG	NP_001161406.1:n.31-25565_31-25563delinsC...
NM_001167935.1:c.131_133delinsCTG	NP_001161407.1:p.Thr44=
NM_031443.3:c.131_133delinsCTG , LRG_664t2:c.131_133delinsCTG	NP_113631.1:p.Thr44=
NR_030770.1:n.213_215delinsCTG
XM_006715785.2:c.93+10556_93+10558delinsCTG	XP_006715848.1:n.93+10556_93+10558delinsC...
XM_006715786.2:c.194_196delinsCTG	XP_006715849.1:p.Thr65=
XM_011515561.1:c.194_196delinsCTG	XP_011513863.1:p.Thr65=
XM_011515562.1:c.131_133delinsCTG	XP_011513864.1:p.Thr44=
XM_011515563.1:c.93+10556_93+10558delinsCTG	XP_011513865.1:n.93+10556_93+10558delinsC...
XM_011515564.1:c.31-25565_31-25563delinsCTG	XP_011513866.1:n.31-25565_31-25563delinsC...
XR_428088.2:n.207_209delinsCTG
NM_001363458.1:c.131_133delinsCTG	NP_001350387.1:p.Thr44=
NM_001363459.1:c.31-25565_31-25563delinsCTG	NP_001350388.1:n.31-25565_31-25563delinsC...
XM_006715785.4:c.93+10556_93+10558delinsCTG	XP_006715848.1:n.93+10556_93+10558delinsC...
XM_006715786.3:c.194_196delinsCTG	XP_006715849.1:p.Thr65=
XM_011515561.2:c.194_196delinsCTG	XP_011513863.1:p.Thr65=
XM_011515563.3:c.93+10556_93+10558delinsCTG	XP_011513865.1:n.93+10556_93+10558delinsC...
XM_017012671.1:c.194_196delinsCTG	XP_016868160.1:p.Thr65=
XM_017012672.2:c.93+10556_93+10558delinsCTG	XP_016868161.1:n.93+10556_93+10558delinsC...
XM_017012673.1:c.31-25565_31-25563delinsCTG	XP_016868162.1:n.31-25565_31-25563delinsC...
XR_428088.3:n.227_229delinsCTG
NM_001363458.2:c.131_133delinsCTG	NP_001350387.1:p.Thr44=
NM_001363459.2:c.31-25565_31-25563delinsCTG	NP_001350388.1:n.31-25565_31-25563delinsC...
NM_031443.4:c.131_133delinsCTG MANE Select	NP_113631.1:p.Thr44=
NR_030770.2:n.213_215delinsCTG
NM_001167934.2:c.31-25565_31-25563delinsCTG	NP_001161406.1:n.31-25565_31-25563delinsC...
NM_001167935.2:c.131_133delinsCTG	NP_001161407.1:p.Thr44=