Canonical Allele Identifier: CA2687301834

Gene: RP1

Linked Data

• gnomAD v4: 8-54626338-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626339del , CM000670.2:g.54626339del	GRCh38
NC_000008.10:g.55538899del , CM000670.1:g.55538899del	GRCh37
NC_000008.9:g.55701452del	NCBI36
NG_009840.1:g.15273del
NG_009840.2:g.15273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2457del MANE Select	ENSP00000220676.1:p.Leu819PhefsTer29
ENST00000636932.1:c.787+4051del	ENSP00000489857.1:n.787+4051del
ENST00000637698.1:c.787+4051del	ENSP00000490104.1:n.787+4051del
ENST00000220676.1:c.2457del	ENSP00000220676.1:p.Leu819PhefsTer29
NM_006269.1:c.2457del	NP_006260.1:p.Leu819PhefsTer29
XM_017013721.1:c.2478del	XP_016869210.1:p.Leu826PhefsTer29
XM_017013722.1:c.2457del	XP_016869211.1:p.Leu819PhefsTer29
NM_001375654.1:c.787+4051del	NP_001362583.1:n.787+4051del
NM_006269.2:c.2457del MANE Select	NP_006260.1:p.Leu819PhefsTer29