Canonical Allele Identifier: CA582159200

Gene: RP1

Linked Data

• dbSNP Id: rs1318277230
• gnomAD v2: 8-55540587-ATGGAT-A
• gnomAD v4: 8-54628027-ATGGAT-A
• MyVariant Identifiers: chr8:g.55540588_55540592del (hg19) ; chr8:g.54628028_54628032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628029_54628033del , CM000670.2:g.54628029_54628033del	GRCh38
NC_000008.10:g.55540589_55540593del , CM000670.1:g.55540589_55540593del	GRCh37
NC_000008.9:g.55703142_55703146del	NCBI36
NG_009840.1:g.16963_16967del
NG_009840.2:g.16963_16967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4147_4151del MANE Select	ENSP00000220676.1:p.Gly1383Ter
ENST00000636932.1:c.787+5741_787+5745del	ENSP00000489857.1:n.787+5741_787+5745del
ENST00000637698.1:c.787+5741_787+5745del	ENSP00000490104.1:n.787+5741_787+5745del
ENST00000220676.1:c.4147_4151del	ENSP00000220676.1:p.Gly1383Ter
NM_006269.1:c.4147_4151del	NP_006260.1:p.Gly1383Ter
XM_017013721.1:c.4168_4172del	XP_016869210.1:p.Gly1390Ter
XM_017013722.1:c.4147_4151del	XP_016869211.1:p.Gly1383Ter
NM_001375654.1:c.787+5741_787+5745del	NP_001362583.1:n.787+5741_787+5745del
NM_006269.2:c.4147_4151del MANE Select	NP_006260.1:p.Gly1383Ter