Canonical Allele Identifier: CA2800816043
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312055_21312056insA , CM000676.2:g.21312055_21312056insA GRCh38
NC_000014.8:g.21780214_21780215insA , CM000676.1:g.21780214_21780215insA GRCh37
NC_000014.7:g.20850054_20850055insA NCBI36
NG_008933.1:g.29079_29080insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+85_1077+86insA MANE Select ENSP00000382895.2:n.1077+85_1077+86insA
ENST00000400017.6:c.1077+85_1077+86insA ENSP00000382895.2:n.1077+85_1077+86insA
ENST00000556336.5:c.996+85_996+86insA ENSP00000450445.1:n.996+85_996+86insA
ENST00000557771.5:c.996+85_996+86insA ENSP00000451219.1:n.996+85_996+86insA
NM_020366.3:c.1077+85_1077+86insA NP_065099.3:n.1077+85_1077+86insA
XM_011536983.1:c.1044+85_1044+86insA XP_011535285.1:n.1044+85_1044+86insA
NM_020366.4:c.1077+85_1077+86insA MANE Select NP_065099.3:n.1077+85_1077+86insA