Canonical Allele Identifier: CA2686114724
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10622952-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622952_10622953insA , CM000670.2:g.10622952_10622953insA GRCh38
NC_000008.10:g.10480462_10480463insA , CM000670.1:g.10480462_10480463insA GRCh37
NC_000008.9:g.10517872_10517873insA NCBI36
NG_028035.1:g.37155_37156insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.249_250insT MANE Select ENSP00000371923.3:p.Pro84SerfsTer6
ENST00000329335.3:n.499_500insT
ENST00000382483.3:c.249_250insT ENSP00000371923.3:p.Pro84SerfsTer6
NM_178857.5:c.249_250insT NP_849188.4:p.Pro84SerfsTer6
NM_178857.6:c.249_250insT MANE Select NP_849188.4:p.Pro84SerfsTer6
Search 100 bp 5'
Search 100 bp 3'