Canonical Allele Identifier: CA2716492598

Gene: RP1L1

Linked Data

• dbSNP Id: rs2117225110

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622442_10622443del , CM000670.2:g.10622442_10622443del	GRCh38
NC_000008.10:g.10479952_10479953del , CM000670.1:g.10479952_10479953del	GRCh37
NC_000008.9:g.10517362_10517363del	NCBI36
NG_028035.1:g.37665_37666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+150_609+151del MANE Select	ENSP00000371923.3:n.609+150_609+151del
ENST00000329335.3:n.859+150_859+151del
ENST00000382483.3:c.609+150_609+151del	ENSP00000371923.3:n.609+150_609+151del
NM_178857.5:c.609+150_609+151del	NP_849188.4:n.609+150_609+151del
NM_178857.6:c.609+150_609+151del MANE Select	NP_849188.4:n.609+150_609+151del