Canonical Allele Identifier: CA2624069947

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21312093-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312096del , CM000676.2:g.21312096del	GRCh38
NC_000014.8:g.21780255del , CM000676.1:g.21780255del	GRCh37
NC_000014.7:g.20850095del	NCBI36
NG_008933.1:g.29120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+126del MANE Select	ENSP00000382895.2:n.1077+126del
ENST00000400017.6:c.1077+126del	ENSP00000382895.2:n.1077+126del
ENST00000556336.5:c.996+126del	ENSP00000450445.1:n.996+126del
ENST00000557771.5:c.996+126del	ENSP00000451219.1:n.996+126del
NM_020366.3:c.1077+126del	NP_065099.3:n.1077+126del
XM_011536983.1:c.1044+126del	XP_011535285.1:n.1044+126del
NM_020366.4:c.1077+126del MANE Select	NP_065099.3:n.1077+126del