Canonical Allele Identifier: CA918199342
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1563130922
gnomAD v4: 8-10622756-TTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622757_10622758del , CM000670.2:g.10622757_10622758del GRCh38
NC_000008.10:g.10480267_10480268del , CM000670.1:g.10480267_10480268del GRCh37
NC_000008.9:g.10517677_10517678del NCBI36
NG_028035.1:g.37350_37351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.444_445del MANE Select ENSP00000371923.3:p.Lys149AsnfsTer9
ENST00000329335.3:n.694_695del
ENST00000382483.3:c.444_445del ENSP00000371923.3:p.Lys149AsnfsTer9
NM_178857.5:c.444_445del NP_849188.4:p.Lys149AsnfsTer9
NM_178857.6:c.444_445del MANE Select NP_849188.4:p.Lys149AsnfsTer9
Search 100 bp 5'
Search 100 bp 3'