Canonical Allele Identifier: CA2687301981

Gene: RP1

Linked Data

• gnomAD v4: 8-54627981-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627982del , CM000670.2:g.54627982del	GRCh38
NC_000008.10:g.55540542del , CM000670.1:g.55540542del	GRCh37
NC_000008.9:g.55703095del	NCBI36
NG_009840.1:g.16916del
NG_009840.2:g.16916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4100del MANE Select	ENSP00000220676.1:p.Asp1367AlafsTer6
ENST00000636932.1:c.787+5694del	ENSP00000489857.1:n.787+5694del
ENST00000637698.1:c.787+5694del	ENSP00000490104.1:n.787+5694del
ENST00000220676.1:c.4100del	ENSP00000220676.1:p.Asp1367AlafsTer6
NM_006269.1:c.4100del	NP_006260.1:p.Asp1367AlafsTer6
XM_017013721.1:c.4121del	XP_016869210.1:p.Asp1374AlafsTer6
XM_017013722.1:c.4100del	XP_016869211.1:p.Asp1367AlafsTer6
NM_001375654.1:c.787+5694del	NP_001362583.1:n.787+5694del
NM_006269.2:c.4100del MANE Select	NP_006260.1:p.Asp1367AlafsTer6