Canonical Allele Identifier: CA1763389453
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622598_10622599delinsTC , CM000670.2:g.10622598_10622599delinsTC GRCh38
NC_000008.10:g.10480108_10480109delinsTC , CM000670.1:g.10480108_10480109delinsTC GRCh37
NC_000008.9:g.10517518_10517519delinsTC NCBI36
NG_028035.1:g.37509_37510delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.603_604delinsGA MANE Select ENSP00000371923.3:p.Gly201=
ENST00000329335.3:n.853_854delinsGA
ENST00000382483.3:c.603_604delinsGA ENSP00000371923.3:p.Gly201=
NM_178857.5:c.603_604delinsGA NP_849188.4:p.Gly201=
NM_178857.6:c.603_604delinsGA MANE Select NP_849188.4:p.Gly201=