Canonical Allele Identifier: CA2739290045

Gene: RP1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622719del , CM000670.2:g.10622719del	GRCh38
NC_000008.10:g.10480229del , CM000670.1:g.10480229del	GRCh37
NC_000008.9:g.10517639del	NCBI36
NG_028035.1:g.37391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.485del MANE Select	ENSP00000371923.3:p.Pro162LeufsTer?
ENST00000329335.3:n.735del
ENST00000382483.3:c.485del	ENSP00000371923.3:p.Pro162LeufsTer?
NM_178857.5:c.485del	NP_849188.4:p.Pro162LeufsTer?
NM_178857.6:c.485del MANE Select	NP_849188.4:p.Pro162LeufsTer?