Canonical Allele Identifier: CA1763389838
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622784_10622785delinsCT , CM000670.2:g.10622784_10622785delinsCT GRCh38
NC_000008.10:g.10480294_10480295delinsCT , CM000670.1:g.10480294_10480295delinsCT GRCh37
NC_000008.9:g.10517704_10517705delinsCT NCBI36
NG_028035.1:g.37323_37324delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.417_418delinsAG MANE Select ENSP00000371923.3:p.Pro139=
ENST00000329335.3:n.667_668delinsAG
ENST00000382483.3:c.417_418delinsAG ENSP00000371923.3:p.Pro139=
NM_178857.5:c.417_418delinsAG NP_849188.4:p.Pro139=
NM_178857.6:c.417_418delinsAG MANE Select NP_849188.4:p.Pro139=
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Search 100 bp 3'