Canonical Allele Identifier: CA4625762
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225460
dbSNP Id: rs138816053

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622877_10622878insA , CM000670.2:g.10622877_10622878insA GRCh38
NC_000008.10:g.10480387_10480388insA , CM000670.1:g.10480387_10480388insA GRCh37
NC_000008.9:g.10517797_10517798insA NCBI36
NG_028035.1:g.37230_37231insT

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.324_325insT MANE Select ENSP00000371923.3:p.Pro109SerfsTer29
ENST00000329335.3:n.574_575insT
ENST00000382483.3:c.324_325insT ENSP00000371923.3:p.Pro109SerfsTer29
NM_178857.5:c.324_325insT NP_849188.4:p.Pro109SerfsTer29
NM_178857.6:c.324_325insT MANE Select NP_849188.4:p.Pro109SerfsTer29