Canonical Allele Identifier: CA2686114638
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10622888-GAGCAGAGGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622894_10622902del , CM000670.2:g.10622894_10622902del GRCh38
NC_000008.10:g.10480404_10480412del , CM000670.1:g.10480404_10480412del GRCh37
NC_000008.9:g.10517814_10517822del NCBI36
NG_028035.1:g.37211_37219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.305_313del MANE Select ENSP00000371923.3:p.Tyr102_Cys104del
ENST00000329335.3:n.555_563del
ENST00000382483.3:c.305_313del ENSP00000371923.3:p.Tyr102_Cys104del
NM_178857.5:c.305_313del NP_849188.4:p.Tyr102_Cys104del
NM_178857.6:c.305_313del MANE Select NP_849188.4:p.Tyr102_Cys104del
Search 100 bp 5'
Search 100 bp 3'