Canonical Allele Identifier: CA582097044

Gene: RP1

Linked Data

• dbSNP Id: rs1403016473
• gnomAD v2: 8-55540572-ACCC-A
• gnomAD v4: 8-54628012-ACCC-A
• MyVariant Identifiers: chr8:g.55540573_55540575del (hg19) ; chr8:g.54628013_54628015del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628013_54628015del , CM000670.2:g.54628013_54628015del	GRCh38
NC_000008.10:g.55540573_55540575del , CM000670.1:g.55540573_55540575del	GRCh37
NC_000008.9:g.55703126_55703128del	NCBI36
NG_009840.1:g.16947_16949del
NG_009840.2:g.16947_16949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4131_4133del MANE Select	ENSP00000220676.1:p.Pro1378del
ENST00000636932.1:c.787+5725_787+5727del	ENSP00000489857.1:n.787+5725_787+5727del
ENST00000637698.1:c.787+5725_787+5727del	ENSP00000490104.1:n.787+5725_787+5727del
ENST00000220676.1:c.4131_4133del	ENSP00000220676.1:p.Pro1378del
NM_006269.1:c.4131_4133del	NP_006260.1:p.Pro1378del
XM_017013721.1:c.4152_4154del	XP_016869210.1:p.Pro1385del
XM_017013722.1:c.4131_4133del	XP_016869211.1:p.Pro1378del
NM_001375654.1:c.787+5725_787+5727del	NP_001362583.1:n.787+5725_787+5727del
NM_006269.2:c.4131_4133del MANE Select	NP_006260.1:p.Pro1378del