Canonical Allele Identifier: CA2686114059

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10612888-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612891del , CM000670.2:g.10612891del	GRCh38
NC_000008.10:g.10470401del , CM000670.1:g.10470401del	GRCh37
NC_000008.9:g.10507811del	NCBI36
NG_028035.1:g.47219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1209del MANE Select	ENSP00000371923.3:p.Lys404SerfsTer?
ENST00000382483.3:c.1209del	ENSP00000371923.3:p.Lys404SerfsTer?
NM_178857.5:c.1209del	NP_849188.4:p.Lys404SerfsTer?
NM_178857.6:c.1209del MANE Select	NP_849188.4:p.Lys404SerfsTer?