Canonical Allele Identifier: CA3246624

Gene: C9

Linked Data

• ClinVar Variation Id: 830026
• ClinVar RCV Id: RCV001029996 ; RCV002481844 ; RCV002552035
• dbSNP Id: rs762159491
• ExAC: 5:39285303 AT / A
• gnomAD v2: 5-39285303-AT-A
• gnomAD v3: 5-39285201-AT-A
• gnomAD v4: 5-39285201-AT-A
• MyVariant Identifiers: chr5:g.39285304del (hg19) ; chr5:g.39285203del (hg38) ; chr5:g.39285202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39285206del , CM000667.2:g.39285206del	GRCh38
NC_000005.9:g.39285308del , CM000667.1:g.39285308del	GRCh37
NC_000005.8:g.39321065del	NCBI36
NG_009894.1:g.84352del , LRG_32:g.84352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509186.6:c.1605del	ENSP00000512235.1:p.Lys535AsnfsTer?
ENST00000695880.1:c.1548del	ENSP00000512236.1:p.Lys516AsnfsTer?
ENST00000695881.1:c.*339del	ENSP00000512237.1:n.*339del
ENST00000695882.1:n.808del
ENST00000263408.5:c.1677del MANE Select	ENSP00000263408.4:p.Lys559AsnfsTer?
ENST00000263408.4:c.1677del	ENSP00000263408.4:p.Lys559AsnfsTer?
NM_001737.3:c.1677del , LRG_32t1:c.1677del	NP_001728.1:p.Lys559AsnfsTer?
NM_001737.4:c.1677del	NP_001728.1:p.Lys559AsnfsTer?
NM_001737.5:c.1677del MANE Select	NP_001728.1:p.Lys559AsnfsTer?