Canonical Allele Identifier: CA1172053800

Gene: RAVER2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832928_64832930delinsCAG , CM000663.2:g.64832928_64832930delinsCAG	GRCh38
NC_000001.10:g.65298611_65298613delinsCAG , CM000663.1:g.65298611_65298613delinsCAG	GRCh37
NC_000001.9:g.65071199_65071201delinsCAG	NCBI36
NG_023402.1:g.138575_138577delinsCTG
NG_023402.2:g.239817_239819delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1943_*1945delinsCAG MANE Select	ENSP00000294428.3:n.*1943_*1945delinsCAG
ENST00000294428.7:c.*1943_*1945delinsCAG	ENSP00000294428.3:n.*1943_*1945delinsCAG
ENST00000371072.8:c.*1943_*1945delinsCAG	ENSP00000360112.4:n.*1943_*1945delinsCAG
NM_018211.3:c.*1943_*1945delinsCAG	NP_060681.2:n.*1943_*1945delinsCAG
XM_006710738.2:c.*1943_*1945delinsCAG	XP_006710801.2:n.*1943_*1945delinsCAG
NM_001366165.1:c.*1943_*1945delinsCAG	NP_001353094.1:n.*1943_*1945delinsCAG
XR_946693.3:n.4362_4364delinsCAG
NM_018211.4:c.*1943_*1945delinsCAG	NP_060681.2:n.*1943_*1945delinsCAG
NM_001366165.2:c.*1943_*1945delinsCAG MANE Select	NP_001353094.1:n.*1943_*1945delinsCAG