Canonical Allele Identifier: CA2779033529

Gene: RP1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622522_10622523dup , CM000670.2:g.10622522_10622523dup	GRCh38
NC_000008.10:g.10480032_10480033dup , CM000670.1:g.10480032_10480033dup	GRCh37
NC_000008.9:g.10517442_10517443dup	NCBI36
NG_028035.1:g.37592_37593dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+77_609+78dup MANE Select	ENSP00000371923.3:n.609+77_609+78dup
ENST00000329335.3:n.859+77_859+78dup
ENST00000382483.3:c.609+77_609+78dup	ENSP00000371923.3:n.609+77_609+78dup
NM_178857.5:c.609+77_609+78dup	NP_849188.4:n.609+77_609+78dup
NM_178857.6:c.609+77_609+78dup MANE Select	NP_849188.4:n.609+77_609+78dup