Canonical Allele Identifier: CA2775257690

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000302_45000489del , CM000669.2:g.45000302_45000489del	GRCh38
NC_000007.13:g.45039901_45040088del , CM000669.1:g.45039901_45040088del	GRCh37
NC_000007.12:g.45006426_45006613del	NCBI36
NG_016295.1:g.5115_5302del , LRG_664:g.5115_5302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-32_30+126del
ENST00000258781.10:c.-32_30+126del
ENST00000461377.5:n.383+445_383+632del
ENST00000478582.5:n.114_175+126del
ENST00000488727.5:c.-32_30+126del
ENST00000541586.5:c.-32_30+126del
ENST00000544363.5:c.-32_30+126del
NM_001167934.1:c.-32_30+126del
NM_001167935.1:c.-32_30+126del
NM_031443.3:c.-32_30+126del , LRG_664t2:c.-32_30+126del
NR_030770.1:n.112+445_112+632del
XM_011515562.1:c.-32_30+126del
XM_011515564.1:c.-32_30+126del
NM_001363458.1:c.-32_30+126del
NM_001363459.1:c.-32_30+126del
XM_017012673.1:c.-32_30+126del
NM_001363458.2:c.-32_30+126del
NM_001363459.2:c.-32_30+126del
NM_031443.4:c.-32_30+126del
NR_030770.2:n.112+445_112+632del
NM_001167934.2:c.-32_30+126del
NM_001167935.2:c.-32_30+126del