Canonical Allele Identifier: CA2686113920
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612780-GGCCCCACAGGCCACT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612783_10612797del , CM000670.2:g.10612783_10612797del GRCh38
NC_000008.10:g.10470293_10470307del , CM000670.1:g.10470293_10470307del GRCh37
NC_000008.9:g.10507703_10507717del NCBI36
NG_028035.1:g.47313_47327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1303_1317del MANE Select ENSP00000371923.3:p.Ser435_Gly439del
ENST00000382483.3:c.1303_1317del ENSP00000371923.3:p.Ser435_Gly439del
NM_178857.5:c.1303_1317del NP_849188.4:p.Ser435_Gly439del
NM_178857.6:c.1303_1317del MANE Select NP_849188.4:p.Ser435_Gly439del
Search 100 bp 5'
Search 100 bp 3'