Canonical Allele Identifier: CA459619904

Gene: RP1L1

Linked Data

• COSMIC: COSM1453875
• MyVariant Identifiers: chr8:g.10470467del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612960del , CM000670.2:g.10612960del	GRCh38
NC_000008.10:g.10470470del , CM000670.1:g.10470470del	GRCh37
NC_000008.9:g.10507880del	NCBI36
NG_028035.1:g.47151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1141del MANE Select	ENSP00000371923.3:p.Val381CysfsTer?
ENST00000382483.3:c.1141del	ENSP00000371923.3:p.Val381CysfsTer?
NM_178857.5:c.1141del	NP_849188.4:p.Val381CysfsTer?
NM_178857.6:c.1141del MANE Select	NP_849188.4:p.Val381CysfsTer?