Canonical Allele Identifier: CA580030417
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1563120419
gnomAD v2: 8-10465705-TCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGTCTGCC-T
gnomAD v3: 8-10608195-TCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGTCTGCC-T
gnomAD v4: 8-10608195-TCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGTCTGCC-T
MyVariant Identifiers: chr8:g.10465706_10465753del (hg19) chr8:g.10608196_10608243del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608211_10608258del , CM000670.2:g.10608211_10608258del GRCh38
NC_000008.10:g.10465721_10465768del , CM000670.1:g.10465721_10465768del GRCh37
NC_000008.9:g.10503131_10503178del NCBI36
NG_028035.1:g.51865_51912del

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5855_5902del MANE Select ENSP00000371923.3:p.Gly1952_Glu1967del
ENST00000382483.3:c.5855_5902del ENSP00000371923.3:p.Gly1952_Glu1967del
NM_178857.5:c.5855_5902del NP_849188.4:p.Gly1952_Glu1967del
NM_178857.6:c.5855_5902del MANE Select NP_849188.4:p.Gly1952_Glu1967del
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