Canonical Allele Identifier: CA2686114258

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10622450-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622451dup , CM000670.2:g.10622451dup	GRCh38
NC_000008.10:g.10479961dup , CM000670.1:g.10479961dup	GRCh37
NC_000008.9:g.10517371dup	NCBI36
NG_028035.1:g.37657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+142dup MANE Select	ENSP00000371923.3:n.609+142dup
ENST00000329335.3:n.859+142dup
ENST00000382483.3:c.609+142dup	ENSP00000371923.3:n.609+142dup
NM_178857.5:c.609+142dup	NP_849188.4:n.609+142dup
NM_178857.6:c.609+142dup MANE Select	NP_849188.4:n.609+142dup