Canonical Allele Identifier: CA845135677

Gene: RP1L1

Linked Data

• dbSNP Id: rs1467132652
• MyVariant Identifiers: chr8:g.10480039_10480042del (hg19) ; chr8:g.10622529_10622532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622531_10622534del , CM000670.2:g.10622531_10622534del	GRCh38
NC_000008.10:g.10480041_10480044del , CM000670.1:g.10480041_10480044del	GRCh37
NC_000008.9:g.10517451_10517454del	NCBI36
NG_028035.1:g.37576_37579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+61_609+64del MANE Select	ENSP00000371923.3:n.609+61_609+64del
ENST00000329335.3:n.859+61_859+64del
ENST00000382483.3:c.609+61_609+64del	ENSP00000371923.3:n.609+61_609+64del
NM_178857.5:c.609+61_609+64del	NP_849188.4:n.609+61_609+64del
NM_178857.6:c.609+61_609+64del MANE Select	NP_849188.4:n.609+61_609+64del