Canonical Allele Identifier: CA461098776

Gene: RP1

Linked Data

• ClinVar Variation Id: 1297110
• ClinVar RCV Id: RCV001724814
• dbSNP Id: rs1174193938
• gnomAD v2: 8-55538481-C-CA
• gnomAD v3: 8-54625921-C-CA
• gnomAD v4: 8-54625921-C-CA
• MyVariant Identifiers: chr8:g.55538481_55538482insA (hg19) ; chr8:g.54625921_54625922insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625923dup , CM000670.2:g.54625923dup	GRCh38
NC_000008.10:g.55538483dup , CM000670.1:g.55538483dup	GRCh37
NC_000008.9:g.55701036dup	NCBI36
NG_009840.1:g.14857dup
NG_009840.2:g.14857dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.2041dup MANE Select	ENSP00000220676.1:p.Ile681AsnfsTer17
ENST00000636932.1:c.787+3635dup	ENSP00000489857.1:n.787+3635dup
ENST00000637698.1:c.787+3635dup	ENSP00000490104.1:n.787+3635dup
ENST00000220676.1:c.2041dup	ENSP00000220676.1:p.Ile681AsnfsTer17
NM_006269.1:c.2041dup	NP_006260.1:p.Ile681AsnfsTer17
XM_017013721.1:c.2062dup	XP_016869210.1:p.Ile688AsnfsTer17
XM_017013722.1:c.2041dup	XP_016869211.1:p.Ile681AsnfsTer17
NM_001375654.1:c.787+3635dup	NP_001362583.1:n.787+3635dup
NM_006269.2:c.2041dup MANE Select	NP_006260.1:p.Ile681AsnfsTer17