Canonical Allele Identifier: CA2624071783

Gene: RPGRIP1

Linked Data

• gnomAD v4: 14-21324829-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324829_21324830insA , CM000676.2:g.21324829_21324830insA	GRCh38
NC_000014.8:g.21792988_21792989insA , CM000676.1:g.21792988_21792989insA	GRCh37
NC_000014.7:g.20862828_20862829insA	NCBI36
NG_008933.1:g.41853_41854insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1974_1975insA MANE Select	ENSP00000382895.2:p.Tyr659IlefsTer2
ENST00000382933.8:c.689-2794_689-2793insA	ENSP00000372391.4:n.689-2794_689-2793insA
ENST00000400017.6:c.1974_1975insA	ENSP00000382895.2:p.Tyr659IlefsTer2
ENST00000553500.5:n.328+104_328+105insA
ENST00000553927.1:n.906_907insA
ENST00000554303.1:c.360_361insA	ENSP00000450426.1:p.Tyr121IlefsTer2
ENST00000555322.5:c.401_402insA
ENST00000555489.5:c.213-46_213-45insA	ENSP00000451044.1:n.213-46_213-45insA
ENST00000555587.5:c.399_400insA	ENSP00000451262.1:p.Tyr134IlefsTer2
ENST00000556336.5:c.1682-2794_1682-2793insA	ENSP00000450445.1:n.1682-2794_1682-2793insA
ENST00000557771.5:c.1860_1861insA	ENSP00000451219.1:p.Tyr621IlefsTer2
NM_020366.3:c.1974_1975insA	NP_065099.3:p.Tyr659IlefsTer2
XM_005267879.2:c.900_901insA	XP_005267936.1:p.Tyr301IlefsTer2
XM_005267880.2:c.867_868insA	XP_005267937.1:p.Tyr290IlefsTer2
XM_005267881.2:c.348_349insA	XP_005267938.1:p.Tyr117IlefsTer2
XM_011536978.1:c.900_901insA	XP_011535280.1:p.Tyr301IlefsTer2
XM_011536979.1:c.796+104_796+105insA	XP_011535281.1:n.796+104_796+105insA
XM_011536980.1:c.796+104_796+105insA	XP_011535282.1:n.796+104_796+105insA
XM_011536981.1:c.900_901insA	XP_011535283.1:p.Tyr301IlefsTer2
XM_011536982.1:c.796+104_796+105insA	XP_011535284.1:n.796+104_796+105insA
XM_011536983.1:c.1941_1942insA	XP_011535285.1:p.Tyr648IlefsTer2
XM_005267881.3:c.348_349insA	XP_005267938.1:p.Tyr117IlefsTer2
XM_017021473.1:c.900_901insA	XP_016876962.1:p.Tyr301IlefsTer2
XM_024449663.1:c.900_901insA	XP_024305431.1:p.Tyr301IlefsTer2
XM_024449664.1:c.900_901insA	XP_024305432.1:p.Tyr301IlefsTer2
XM_024449665.1:c.796+104_796+105insA	XP_024305433.1:n.796+104_796+105insA
XM_024449666.1:c.796+104_796+105insA	XP_024305434.1:n.796+104_796+105insA
NM_001377523.1:c.689-2794_689-2793insA	NP_001364452.1:n.689-2794_689-2793insA
NM_001377948.1:c.900_901insA	NP_001364877.1:p.Tyr301IlefsTer2
NM_001377949.1:c.796+104_796+105insA	NP_001364878.1:n.796+104_796+105insA
NM_001377950.1:c.689-2794_689-2793insA	NP_001364879.1:n.689-2794_689-2793insA
NM_001377951.1:c.191-2794_191-2793insA	NP_001364880.1:n.191-2794_191-2793insA
NM_020366.4:c.1974_1975insA MANE Select	NP_065099.3:p.Tyr659IlefsTer2