Canonical Allele Identifier: CA1763389226
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1798075932
gnomAD v4: 8-10622476-T-TAGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622482_10622484dup , CM000670.2:g.10622482_10622484dup GRCh38
NC_000008.10:g.10479992_10479994dup , CM000670.1:g.10479992_10479994dup GRCh37
NC_000008.9:g.10517402_10517404dup NCBI36
NG_028035.1:g.37629_37631dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+114_609+116dup MANE Select ENSP00000371923.3:n.609+114_609+116dup
ENST00000329335.3:n.859+114_859+116dup
ENST00000382483.3:c.609+114_609+116dup ENSP00000371923.3:n.609+114_609+116dup
NM_178857.5:c.609+114_609+116dup NP_849188.4:n.609+114_609+116dup
NM_178857.6:c.609+114_609+116dup MANE Select NP_849188.4:n.609+114_609+116dup
Search 100 bp 5'
Search 100 bp 3'