Canonical Allele Identifier: CA2122452671
Gene: RPGRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1881563972
gnomAD v4: 14-21312118-ATT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312119_21312120del , CM000676.2:g.21312119_21312120del GRCh38
NC_000014.8:g.21780278_21780279del , CM000676.1:g.21780278_21780279del GRCh37
NC_000014.7:g.20850118_20850119del NCBI36
NG_008933.1:g.29143_29144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+149_1077+150del MANE Select ENSP00000382895.2:n.1077+149_1077+150del
ENST00000400017.6:c.1077+149_1077+150del ENSP00000382895.2:n.1077+149_1077+150del
ENST00000556336.5:c.996+149_996+150del ENSP00000450445.1:n.996+149_996+150del
ENST00000557771.5:c.996+149_996+150del ENSP00000451219.1:n.996+149_996+150del
NM_020366.3:c.1077+149_1077+150del NP_065099.3:n.1077+149_1077+150del
XM_011536983.1:c.1044+149_1044+150del XP_011535285.1:n.1044+149_1044+150del
NM_020366.4:c.1077+149_1077+150del MANE Select NP_065099.3:n.1077+149_1077+150del
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