Canonical Allele Identifier: CA916082971
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 866221
ClinVar RCV Id: RCV001074041
dbSNP Id: rs771757943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622778_10622780dup , CM000670.2:g.10622778_10622780dup GRCh38
NC_000008.10:g.10480288_10480290dup , CM000670.1:g.10480288_10480290dup GRCh37
NC_000008.9:g.10517698_10517700dup NCBI36
NG_028035.1:g.37336_37338dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.430_432dup MANE Select ENSP00000371923.3:p.Ser144_Arg145insSer
ENST00000329335.3:n.680_682dup
ENST00000382483.3:c.430_432dup ENSP00000371923.3:p.Ser144_Arg145insSer
NM_178857.5:c.430_432dup NP_849188.4:p.Ser144_Arg145insSer
NM_178857.6:c.430_432dup MANE Select NP_849188.4:p.Ser144_Arg145insSer
Search 100 bp 5'
Search 100 bp 3'