Canonical Allele Identifier: CA1763378716
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797885124
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612569_10612571dup , CM000670.2:g.10612569_10612571dup GRCh38
NC_000008.10:g.10470079_10470081dup , CM000670.1:g.10470079_10470081dup GRCh37
NC_000008.9:g.10507489_10507491dup NCBI36
NG_028035.1:g.47539_47541dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1529_1531dup MANE Select ENSP00000371923.3:p.Ala510_Gly511insAla
ENST00000382483.3:c.1529_1531dup ENSP00000371923.3:p.Ala510_Gly511insAla
NM_178857.5:c.1529_1531dup NP_849188.4:p.Ala510_Gly511insAla
NM_178857.6:c.1529_1531dup MANE Select NP_849188.4:p.Ala510_Gly511insAla
Search 100 bp 5'
Search 100 bp 3'