Canonical Allele Identifier: CA1172053840

Gene: RAVER2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832990_64832994delinsCAAAG , CM000663.2:g.64832990_64832994delinsCAAAG	GRCh38
NC_000001.10:g.65298673_65298677delinsCAAAG , CM000663.1:g.65298673_65298677delinsCAAAG	GRCh37
NC_000001.9:g.65071261_65071265delinsCAAAG	NCBI36
NG_023402.1:g.138511_138515delinsCTTTG
NG_023402.2:g.239753_239757delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*2005_*2009delinsCAAAG MANE Select	ENSP00000294428.3:n.*2005_*2009delinsCAAAG
ENST00000294428.7:c.*2005_*2009delinsCAAAG	ENSP00000294428.3:n.*2005_*2009delinsCAAAG
ENST00000371072.8:c.*2005_*2009delinsCAAAG	ENSP00000360112.4:n.*2005_*2009delinsCAAAG
NM_018211.3:c.*2005_*2009delinsCAAAG	NP_060681.2:n.*2005_*2009delinsCAAAG
XM_006710738.2:c.*2005_*2009delinsCAAAG	XP_006710801.2:n.*2005_*2009delinsCAAAG
NM_001366165.1:c.*2005_*2009delinsCAAAG	NP_001353094.1:n.*2005_*2009delinsCAAAG
XR_946693.3:n.4424_4428delinsCAAAG
NM_018211.4:c.*2005_*2009delinsCAAAG	NP_060681.2:n.*2005_*2009delinsCAAAG
NM_001366165.2:c.*2005_*2009delinsCAAAG MANE Select	NP_001353094.1:n.*2005_*2009delinsCAAAG