Canonical Allele Identifier: CA117172603

Gene: C9

Linked Data

• ClinVar Variation Id: 1457531
• ClinVar RCV Id: RCV001953807 ; RCV002077349
• dbSNP Id: rs1027370764
• MyVariant Identifiers: chr5:g.39311308_39311311del (hg19) ; chr5:g.39311206_39311209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39311206_39311209del , CM000667.2:g.39311206_39311209del	GRCh38
NC_000005.9:g.39311308_39311311del , CM000667.1:g.39311308_39311311del	GRCh37
NC_000005.8:g.39347065_39347068del	NCBI36
NG_009894.1:g.58345_58348del , LRG_32:g.58345_58348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509186.6:c.967_970del	ENSP00000512235.1:p.Ser323AlafsTer5
ENST00000695880.1:c.1039_1042del	ENSP00000512236.1:p.Ser347AlafsTer5
ENST00000695881.1:c.1039_1042del	ENSP00000512237.1:p.Ser347AlafsTer5
ENST00000695882.1:n.266_269del
ENST00000263408.5:c.1039_1042del MANE Select	ENSP00000263408.4:p.Ser347AlafsTer5
ENST00000263408.4:c.1039_1042del	ENSP00000263408.4:p.Ser347AlafsTer5
NM_001737.3:c.1039_1042del , LRG_32t1:c.1039_1042del	NP_001728.1:p.Ser347AlafsTer5
NM_001737.4:c.1039_1042del	NP_001728.1:p.Ser347AlafsTer5
NM_001737.5:c.1039_1042del MANE Select	NP_001728.1:p.Ser347AlafsTer5