Canonical Allele Identifier: CA2800825420

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321709_21321713del , CM000676.2:g.21321709_21321713del	GRCh38
NC_000014.8:g.21789868_21789872del , CM000676.1:g.21789868_21789872del	GRCh37
NC_000014.7:g.20859708_20859712del	NCBI36
NG_008933.1:g.38733_38737del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.1612-145_1612-141del MANE Select	ENSP00000382895.2:n.1612-145_1612-141del
ENST00000382933.8:c.538-145_538-141del	ENSP00000372391.4:n.538-145_538-141del
ENST00000400017.6:c.1612-145_1612-141del	ENSP00000382895.2:n.1612-145_1612-141del
ENST00000553500.5:n.70-145_70-141del
ENST00000554303.1:c.31-145_31-141del	ENSP00000450426.1:n.31-145_31-141del
ENST00000555322.5:c.149-148_149-144del
ENST00000555587.5:c.40-148_40-144del	ENSP00000451262.1:n.40-148_40-144del
ENST00000556336.5:c.1531-145_1531-141del	ENSP00000450445.1:n.1531-145_1531-141del
ENST00000557771.5:c.1531-145_1531-141del	ENSP00000451219.1:n.1531-145_1531-141del
NM_020366.3:c.1612-145_1612-141del	NP_065099.3:n.1612-145_1612-141del
XM_005267879.2:c.538-145_538-141del	XP_005267936.1:n.538-145_538-141del
XM_005267880.2:c.538-145_538-141del	XP_005267937.1:n.538-145_538-141del
XM_005267881.2:c.-15-145_-15-141del	XP_005267938.1:n.-15-145_-15-141del
XM_011536978.1:c.538-145_538-141del	XP_011535280.1:n.538-145_538-141del
XM_011536979.1:c.538-145_538-141del	XP_011535281.1:n.538-145_538-141del
XM_011536980.1:c.538-145_538-141del	XP_011535282.1:n.538-145_538-141del
XM_011536981.1:c.538-145_538-141del	XP_011535283.1:n.538-145_538-141del
XM_011536982.1:c.538-145_538-141del	XP_011535284.1:n.538-145_538-141del
XM_011536983.1:c.1579-145_1579-141del	XP_011535285.1:n.1579-145_1579-141del
XM_005267881.3:c.-15-145_-15-141del	XP_005267938.1:n.-15-145_-15-141del
XM_017021473.1:c.538-145_538-141del	XP_016876962.1:n.538-145_538-141del
XM_024449663.1:c.538-145_538-141del	XP_024305431.1:n.538-145_538-141del
XM_024449664.1:c.538-145_538-141del	XP_024305432.1:n.538-145_538-141del
XM_024449665.1:c.538-145_538-141del	XP_024305433.1:n.538-145_538-141del
XM_024449666.1:c.538-145_538-141del	XP_024305434.1:n.538-145_538-141del
NM_001377523.1:c.538-145_538-141del	NP_001364452.1:n.538-145_538-141del
NM_001377948.1:c.538-145_538-141del	NP_001364877.1:n.538-145_538-141del
NM_001377949.1:c.538-145_538-141del	NP_001364878.1:n.538-145_538-141del
NM_001377950.1:c.538-145_538-141del	NP_001364879.1:n.538-145_538-141del
NM_001377951.1:c.40-145_40-141del	NP_001364880.1:n.40-145_40-141del
NM_020366.4:c.1612-145_1612-141del MANE Select	NP_065099.3:n.1612-145_1612-141del