Canonical Allele Identifier: CA339615

Gene: RIPPLY2

Linked Data

• ClinVar Variation Id: 218314
• ClinVar RCV Id: RCV000202450 ; RCV000207167
• dbSNP Id: rs864309489
• MyVariant Identifiers: chr6:g.84567020del (hg19) ; chr6:g.83857301del (hg38)
• PubMed: PMID:25343988 ; PMID:26238661

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.83857301del , CM000668.2:g.83857301del	GRCh38
NC_000006.11:g.84567020del , CM000668.1:g.84567020del	GRCh37
NC_000006.10:g.84623739del	NCBI36
NG_046722.1:g.9036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369689.6:c.299del MANE Select	ENSP00000358703.1:p.Leu100ArgfsTer25
ENST00000369687.2:c.125del	ENSP00000358701.1:p.Leu42ArgfsTer25
ENST00000369689.5:c.299del	ENSP00000358703.1:p.Leu100ArgfsTer25
ENST00000635617.1:n.3712del
NM_001009994.2:c.299del	NP_001009994.1:p.Leu100ArgfsTer25
NR_103525.1:n.356del
NR_103525.2:n.294del
NM_001009994.3:c.299del MANE Select	NP_001009994.1:p.Leu100ArgfsTer25
NM_001400774.1:c.-28+3140del	NP_001387703.1:n.-28+3140del
NM_001400899.1:c.362del	NP_001387828.1:p.Leu121ArgfsTer25
NM_001400900.1:c.*3136del	NP_001387829.1:n.*3136del
NR_174603.1:n.234+3140del
NR_174604.1:n.296+3140del
NR_174605.1:n.455+3242del
NR_174622.1:n.3374del