Canonical Allele Identifier: CA2122460484

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1882895707

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324881_21324882insTT , CM000676.2:g.21324881_21324882insTT	GRCh38
NC_000014.8:g.21793040_21793041insTT , CM000676.1:g.21793040_21793041insTT	GRCh37
NC_000014.7:g.20862880_20862881insTT	NCBI36
NG_008933.1:g.41905_41906insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2026_2027insTT MANE Select	ENSP00000382895.2:p.Tyr676PhefsTer9
ENST00000382933.8:c.689-2742_689-2741insTT	ENSP00000372391.4:n.689-2742_689-2741insTT
ENST00000400017.6:c.2026_2027insTT	ENSP00000382895.2:p.Tyr676PhefsTer9
ENST00000553500.5:n.328+156_328+157insTT
ENST00000553927.1:n.958_959insTT
ENST00000554303.1:c.412_413insTT	ENSP00000450426.1:p.Tyr138PhefsTer?
ENST00000555322.5:c.453_454insTT
ENST00000555489.5:c.219_220insTT	ENSP00000451044.1:n.219_220insTT
ENST00000555587.5:c.451_452insTT	ENSP00000451262.1:p.Tyr151PhefsTer9
ENST00000556336.5:c.1682-2742_1682-2741insTT	ENSP00000450445.1:n.1682-2742_1682-2741insTT
ENST00000557771.5:c.1912_1913insTT	ENSP00000451219.1:p.Tyr638PhefsTer9
NM_020366.3:c.2026_2027insTT	NP_065099.3:p.Tyr676PhefsTer9
XM_005267879.2:c.952_953insTT	XP_005267936.1:p.Tyr318PhefsTer9
XM_005267880.2:c.919_920insTT	XP_005267937.1:p.Tyr307PhefsTer9
XM_005267881.2:c.400_401insTT	XP_005267938.1:p.Tyr134PhefsTer9
XM_011536978.1:c.952_953insTT	XP_011535280.1:p.Tyr318PhefsTer9
XM_011536979.1:c.797-61_797-60insTT	XP_011535281.1:n.797-61_797-60insTT
XM_011536980.1:c.796+156_796+157insTT	XP_011535282.1:n.796+156_796+157insTT
XM_011536981.1:c.952_953insTT	XP_011535283.1:p.Tyr318PhefsTer9
XM_011536982.1:c.796+156_796+157insTT	XP_011535284.1:n.796+156_796+157insTT
XM_011536983.1:c.1993_1994insTT	XP_011535285.1:p.Tyr665PhefsTer9
XM_005267881.3:c.400_401insTT	XP_005267938.1:p.Tyr134PhefsTer9
XM_017021473.1:c.952_953insTT	XP_016876962.1:p.Tyr318PhefsTer9
XM_024449663.1:c.952_953insTT	XP_024305431.1:p.Tyr318PhefsTer9
XM_024449664.1:c.952_953insTT	XP_024305432.1:p.Tyr318PhefsTer9
XM_024449665.1:c.796+156_796+157insTT	XP_024305433.1:n.796+156_796+157insTT
XM_024449666.1:c.796+156_796+157insTT	XP_024305434.1:n.796+156_796+157insTT
NM_001377523.1:c.689-2742_689-2741insTT	NP_001364452.1:n.689-2742_689-2741insTT
NM_001377948.1:c.952_953insTT	NP_001364877.1:p.Tyr318PhefsTer9
NM_001377949.1:c.796+156_796+157insTT	NP_001364878.1:n.796+156_796+157insTT
NM_001377950.1:c.689-2742_689-2741insTT	NP_001364879.1:n.689-2742_689-2741insTT
NM_001377951.1:c.191-2742_191-2741insTT	NP_001364880.1:n.191-2742_191-2741insTT
NM_020366.4:c.2026_2027insTT MANE Select	NP_065099.3:p.Tyr676PhefsTer9