Canonical Allele Identifier: CA587135410

Gene: C9orf72

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27573546_27573547insGGCCCCGGCCCTGGCCCC , CM000671.2:g.27573546_27573547insGGCCCCGGCCCTGGCCCC	GRCh38
NC_000009.11:g.27573544_27573545insGGCCCCGGCCCTGGCCCC , CM000671.1:g.27573544_27573545insGGCCCCGGCCCTGGCCCC	GRCh37
NC_000009.10:g.27563544_27563545insGGCCCCGGCCCTGGCCCC	NCBI36
NG_031977.1:g.5326_5327insAGGGCCGGGGCCGGGGCC
NG_031977.2:g.5326_5327insAGGGCCGGGGCCGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619707.5:c.-45+168_-45+169insAGGGCCGGGGCCGGGGCC	ENSP00000482753.1:n.-45+168_-45+169insAGGGCCGGGGCCGGGGCC
ENST00000647196.1:c.-170+246_-170+247insAGGGCCGGGGCCGGGGCC	ENSP00000494839.1:n.-170+246_-170+247insAGGGCCGGGGCCGGGGCC
ENST00000379995.1:c.-45+183_-45+184insAGGGCCGGGGCCGGGGCC	ENSP00000369331.1:n.-45+183_-45+184insAGGGCCGGGGCCGGGGCC
ENST00000379997.7:c.-45+246_-45+247insAGGGCCGGGGCCGGGGCC	ENSP00000369333.3:n.-45+246_-45+247insAGGGCCGGGGCCGGGGCC
ENST00000461679.1:n.158+168_158+169insAGGGCCGGGGCCGGGGCC
ENST00000619707.4:c.-45+168_-45+169insAGGGCCGGGGCCGGGGCC	ENSP00000482753.1:n.-45+168_-45+169insAGGGCCGGGGCCGGGGCC
NM_001256054.2:c.-45+168_-45+169insAGGGCCGGGGCCGGGGCC	NP_001242983.1:n.-45+168_-45+169insAGGGCCGGGGCCGGGGCC
NM_145005.6:c.-45+246_-45+247insAGGGCCGGGGCCGGGGCC	NP_659442.2:n.-45+246_-45+247insAGGGCCGGGGCCGGGGCC
NM_001256054.3:c.-45+168_-45+169insAGGGCCGGGGCCGGGGCC	NP_001242983.1:n.-45+168_-45+169insAGGGCCGGGGCCGGGGCC
NM_145005.7:c.-45+246_-45+247insAGGGCCGGGGCCGGGGCC	NP_659442.2:n.-45+246_-45+247insAGGGCCGGGGCCGGGGCC