Canonical Allele Identifier: CA580030559
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1272911590
gnomAD v2: 8-10480243-TCAG-T
gnomAD v4: 8-10622733-TCAG-T
MyVariant Identifiers: chr8:g.10480244_10480246del (hg19) chr8:g.10622734_10622736del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622737_10622739del , CM000670.2:g.10622737_10622739del GRCh38
NC_000008.10:g.10480247_10480249del , CM000670.1:g.10480247_10480249del GRCh37
NC_000008.9:g.10517657_10517659del NCBI36
NG_028035.1:g.37372_37374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.466_468del MANE Select ENSP00000371923.3:p.Leu156del
ENST00000329335.3:n.716_718del
ENST00000382483.3:c.466_468del ENSP00000371923.3:p.Leu156del
NM_178857.5:c.466_468del NP_849188.4:p.Leu156del
NM_178857.6:c.466_468del MANE Select NP_849188.4:p.Leu156del
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