Canonical Allele Identifier: CA2779033562
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622722_10622723del , CM000670.2:g.10622722_10622723del GRCh38
NC_000008.10:g.10480232_10480233del , CM000670.1:g.10480232_10480233del GRCh37
NC_000008.9:g.10517642_10517643del NCBI36
NG_028035.1:g.37385_37386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.479_480del MANE Select ENSP00000371923.3:p.Met160ArgfsTer16
ENST00000329335.3:n.729_730del
ENST00000382483.3:c.479_480del ENSP00000371923.3:p.Met160ArgfsTer16
NM_178857.5:c.479_480del NP_849188.4:p.Met160ArgfsTer16
NM_178857.6:c.479_480del MANE Select NP_849188.4:p.Met160ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'