Canonical Allele Identifier: CA2562813357

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21312120-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312121dup , CM000676.2:g.21312121dup	GRCh38
NC_000014.8:g.21780280dup , CM000676.1:g.21780280dup	GRCh37
NC_000014.7:g.20850120dup	NCBI36
NG_008933.1:g.29145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1077+151dup MANE Select	ENSP00000382895.2:n.1077+151dup
ENST00000400017.6:c.1077+151dup	ENSP00000382895.2:n.1077+151dup
ENST00000556336.5:c.996+151dup	ENSP00000450445.1:n.996+151dup
ENST00000557771.5:c.996+151dup	ENSP00000451219.1:n.996+151dup
NM_020366.3:c.1077+151dup	NP_065099.3:n.1077+151dup
XM_011536983.1:c.1044+151dup	XP_011535285.1:n.1044+151dup
NM_020366.4:c.1077+151dup MANE Select	NP_065099.3:n.1077+151dup