Canonical Allele Identifier: CA2800816084

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312542_21312547del , CM000676.2:g.21312542_21312547del	GRCh38
NC_000014.8:g.21780701_21780706del , CM000676.1:g.21780701_21780706del	GRCh37
NC_000014.7:g.20850541_20850546del	NCBI36
NG_008933.1:g.29566_29571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1151+36_1151+41del MANE Select	ENSP00000382895.2:n.1151+36_1151+41del
ENST00000400017.6:c.1151+36_1151+41del	ENSP00000382895.2:n.1151+36_1151+41del
ENST00000556336.5:c.1070+36_1070+41del	ENSP00000450445.1:n.1070+36_1070+41del
ENST00000557771.5:c.1070+36_1070+41del	ENSP00000451219.1:n.1070+36_1070+41del
NM_020366.3:c.1151+36_1151+41del	NP_065099.3:n.1151+36_1151+41del
XM_011536983.1:c.1118+36_1118+41del	XP_011535285.1:n.1118+36_1118+41del
NM_020366.4:c.1151+36_1151+41del MANE Select	NP_065099.3:n.1151+36_1151+41del