Canonical Allele Identifier: CA1763389781
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622756_10622758delinsTTA , CM000670.2:g.10622756_10622758delinsTTA GRCh38
NC_000008.10:g.10480266_10480268delinsTTA , CM000670.1:g.10480266_10480268delinsTTA GRCh37
NC_000008.9:g.10517676_10517678delinsTTA NCBI36
NG_028035.1:g.37350_37352delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.444_446delinsTAA MANE Select ENSP00000371923.3:p.Leu148=
ENST00000329335.3:n.694_696delinsTAA
ENST00000382483.3:c.444_446delinsTAA ENSP00000371923.3:p.Leu148=
NM_178857.5:c.444_446delinsTAA NP_849188.4:p.Leu148=
NM_178857.6:c.444_446delinsTAA MANE Select NP_849188.4:p.Leu148=