Canonical Allele Identifier: CA1110639074
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797750945
gnomAD v3: 8-10608260-CGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG-C
gnomAD v4: 8-10608260-CGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608261_10608305del , CM000670.2:g.10608261_10608305del GRCh38
NC_000008.10:g.10465771_10465815del , CM000670.1:g.10465771_10465815del GRCh37
NC_000008.9:g.10503181_10503225del NCBI36
NG_028035.1:g.51803_51847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.5793_5837del MANE Select ENSP00000371923.3:p.Asp1931_Ala1946delinsGlu
ENST00000382483.3:c.5793_5837del ENSP00000371923.3:p.Asp1931_Ala1946delinsGlu
NM_178857.5:c.5793_5837del NP_849188.4:p.Asp1931_Ala1946delinsGlu
NM_178857.6:c.5793_5837del MANE Select NP_849188.4:p.Asp1931_Ala1946delinsGlu
Search 100 bp 5'
Search 100 bp 3'