Canonical Allele Identifier: CA2800816046
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312059_21312060insAGTC , CM000676.2:g.21312059_21312060insAGTC GRCh38
NC_000014.8:g.21780218_21780219insAGTC , CM000676.1:g.21780218_21780219insAGTC GRCh37
NC_000014.7:g.20850058_20850059insAGTC NCBI36
NG_008933.1:g.29083_29084insAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+89_1077+90insAGTC MANE Select ENSP00000382895.2:n.1077+89_1077+90insAGTC
ENST00000400017.6:c.1077+89_1077+90insAGTC ENSP00000382895.2:n.1077+89_1077+90insAGTC
ENST00000556336.5:c.996+89_996+90insAGTC ENSP00000450445.1:n.996+89_996+90insAGTC
ENST00000557771.5:c.996+89_996+90insAGTC ENSP00000451219.1:n.996+89_996+90insAGTC
NM_020366.3:c.1077+89_1077+90insAGTC NP_065099.3:n.1077+89_1077+90insAGTC
XM_011536983.1:c.1044+89_1044+90insAGTC XP_011535285.1:n.1044+89_1044+90insAGTC
NM_020366.4:c.1077+89_1077+90insAGTC MANE Select NP_065099.3:n.1077+89_1077+90insAGTC