Canonical Allele Identifier: CA2687301873

Gene: RP1

Linked Data

• gnomAD v4: 8-54627658-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627658_54627659insA , CM000670.2:g.54627658_54627659insA	GRCh38
NC_000008.10:g.55540218_55540219insA , CM000670.1:g.55540218_55540219insA	GRCh37
NC_000008.9:g.55702771_55702772insA	NCBI36
NG_009840.1:g.16592_16593insA
NG_009840.2:g.16592_16593insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3776_3777insA MANE Select	ENSP00000220676.1:p.Cys1259Ter
ENST00000636932.1:c.787+5370_787+5371insA	ENSP00000489857.1:n.787+5370_787+5371insA
ENST00000637698.1:c.787+5370_787+5371insA	ENSP00000490104.1:n.787+5370_787+5371insA
ENST00000220676.1:c.3776_3777insA	ENSP00000220676.1:p.Cys1259Ter
NM_006269.1:c.3776_3777insA	NP_006260.1:p.Cys1259Ter
XM_017013721.1:c.3797_3798insA	XP_016869210.1:p.Cys1266Ter
XM_017013722.1:c.3776_3777insA	XP_016869211.1:p.Cys1259Ter
NM_001375654.1:c.787+5370_787+5371insA	NP_001362583.1:n.787+5370_787+5371insA
NM_006269.2:c.3776_3777insA MANE Select	NP_006260.1:p.Cys1259Ter