Canonical Allele Identifier: CA2686113854

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10612730-G-GGCTGGGCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612731_10612741dup , CM000670.2:g.10612731_10612741dup	GRCh38
NC_000008.10:g.10470241_10470251dup , CM000670.1:g.10470241_10470251dup	GRCh37
NC_000008.9:g.10507651_10507661dup	NCBI36
NG_028035.1:g.47367_47377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1357_1367dup MANE Select	ENSP00000371923.3:p.Ser457ProfsTer?
ENST00000382483.3:c.1357_1367dup	ENSP00000371923.3:p.Ser457ProfsTer?
NM_178857.5:c.1357_1367dup	NP_849188.4:p.Ser457ProfsTer?
NM_178857.6:c.1357_1367dup MANE Select	NP_849188.4:p.Ser457ProfsTer?