Canonical Allele Identifier: CA2686113912

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10612776-CCGTGGCCCCACAGGCCACTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612777_10612798del , CM000670.2:g.10612777_10612798del	GRCh38
NC_000008.10:g.10470287_10470308del , CM000670.1:g.10470287_10470308del	GRCh37
NC_000008.9:g.10507697_10507718del	NCBI36
NG_028035.1:g.47310_47331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1300_1321del MANE Select	ENSP00000371923.3:p.Cys434GlyfsTer?
ENST00000382483.3:c.1300_1321del	ENSP00000371923.3:p.Cys434GlyfsTer?
NM_178857.5:c.1300_1321del	NP_849188.4:p.Cys434GlyfsTer?
NM_178857.6:c.1300_1321del MANE Select	NP_849188.4:p.Cys434GlyfsTer?