Canonical Allele Identifier: CA580030625
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1411782855
gnomAD v2: 8-10480393-TATCAG-T
gnomAD v4: 8-10622883-TATCAG-T
MyVariant Identifiers: chr8:g.10480394_10480398del (hg19) chr8:g.10622884_10622888del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622885_10622889del , CM000670.2:g.10622885_10622889del GRCh38
NC_000008.10:g.10480395_10480399del , CM000670.1:g.10480395_10480399del GRCh37
NC_000008.9:g.10517805_10517809del NCBI36
NG_028035.1:g.37220_37224del

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.314_318del MANE Select ENSP00000371923.3:p.Ser105Ter
ENST00000329335.3:n.564_568del
ENST00000382483.3:c.314_318del ENSP00000371923.3:p.Ser105Ter
NM_178857.5:c.314_318del NP_849188.4:p.Ser105Ter
NM_178857.6:c.314_318del MANE Select NP_849188.4:p.Ser105Ter
Search 100 bp 5'
Search 100 bp 3'