Canonical Allele Identifier: CA2575475918
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312528del , CM000676.2:g.21312528del GRCh38
NC_000014.8:g.21780687del , CM000676.1:g.21780687del GRCh37
NC_000014.7:g.20850527del NCBI36
NG_008933.1:g.29552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1151+22del MANE Select ENSP00000382895.2:n.1151+22del
ENST00000400017.6:c.1151+22del ENSP00000382895.2:n.1151+22del
ENST00000556336.5:c.1070+22del ENSP00000450445.1:n.1070+22del
ENST00000557771.5:c.1070+22del ENSP00000451219.1:n.1070+22del
NM_020366.3:c.1151+22del NP_065099.3:n.1151+22del
XM_011536983.1:c.1118+22del XP_011535285.1:n.1118+22del
NM_020366.4:c.1151+22del MANE Select NP_065099.3:n.1151+22del