Canonical Allele Identifier: CA2729136818

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs2139175723

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312128_21312136del , CM000676.2:g.21312128_21312136del	GRCh38
NC_000014.8:g.21780287_21780295del , CM000676.1:g.21780287_21780295del	GRCh37
NC_000014.7:g.20850127_20850135del	NCBI36
NG_008933.1:g.29152_29160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+158_1077+166del MANE Select	ENSP00000382895.2:n.1077+158_1077+166del
ENST00000400017.6:c.1077+158_1077+166del	ENSP00000382895.2:n.1077+158_1077+166del
ENST00000556336.5:c.996+158_996+166del	ENSP00000450445.1:n.996+158_996+166del
ENST00000557771.5:c.996+158_996+166del	ENSP00000451219.1:n.996+158_996+166del
NM_020366.3:c.1077+158_1077+166del	NP_065099.3:n.1077+158_1077+166del
XM_011536983.1:c.1044+158_1044+166del	XP_011535285.1:n.1044+158_1044+166del
NM_020366.4:c.1077+158_1077+166del MANE Select	NP_065099.3:n.1077+158_1077+166del