Canonical Allele Identifier: CA582187727

Gene: RP1

Linked Data

• gnomAD v2: 8-55537460-A-AG
• MyVariant Identifiers: chr8:g.55537460_55537461insG (hg19) ; chr8:g.54624900_54624901insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54624901dup , CM000670.2:g.54624901dup	GRCh38
NC_000008.10:g.55537461dup , CM000670.1:g.55537461dup	GRCh37
NC_000008.9:g.55700014dup	NCBI36
NG_009840.1:g.13835dup
NG_009840.2:g.13835dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.1019dup MANE Select	ENSP00000220676.1:p.Ile341AsnfsTer15
ENST00000636932.1:c.787+2613dup	ENSP00000489857.1:n.787+2613dup
ENST00000637698.1:c.787+2613dup	ENSP00000490104.1:n.787+2613dup
ENST00000220676.1:c.1019dup	ENSP00000220676.1:p.Ile341AsnfsTer15
NM_006269.1:c.1019dup	NP_006260.1:p.Ile341AsnfsTer15
XM_017013721.1:c.1040dup	XP_016869210.1:p.Ile348AsnfsTer15
XM_017013722.1:c.1019dup	XP_016869211.1:p.Ile341AsnfsTer15
NM_001375654.1:c.787+2613dup	NP_001362583.1:n.787+2613dup
NM_006269.2:c.1019dup MANE Select	NP_006260.1:p.Ile341AsnfsTer15