Canonical Allele Identifier: CA2695219128

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324913dup , CM000676.2:g.21324913dup	GRCh38
NC_000014.8:g.21793072dup , CM000676.1:g.21793072dup	GRCh37
NC_000014.7:g.20862912dup	NCBI36
NG_008933.1:g.41937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2058dup MANE Select	ENSP00000382895.2:p.Asp687ArgfsTer16
ENST00000382933.8:c.689-2710dup	ENSP00000372391.4:n.689-2710dup
ENST00000400017.6:c.2058dup	ENSP00000382895.2:p.Asp687ArgfsTer16
ENST00000553500.5:n.328+188dup
ENST00000553927.1:n.990dup
ENST00000555322.5:c.485dup
ENST00000555489.5:c.251dup	ENSP00000451044.1:n.251dup
ENST00000555587.5:c.483dup	ENSP00000451262.1:p.Asp162ArgfsTer16
ENST00000556336.5:c.1682-2710dup	ENSP00000450445.1:n.1682-2710dup
ENST00000557771.5:c.1944dup	ENSP00000451219.1:p.Asp649ArgfsTer16
NM_020366.3:c.2058dup	NP_065099.3:p.Asp687ArgfsTer16
XM_005267879.2:c.984dup	XP_005267936.1:p.Asp329ArgfsTer16
XM_005267880.2:c.951dup	XP_005267937.1:p.Asp318ArgfsTer16
XM_005267881.2:c.432dup	XP_005267938.1:p.Asp145ArgfsTer16
XM_011536978.1:c.984dup	XP_011535280.1:p.Asp329ArgfsTer16
XM_011536979.1:c.797-29dup	XP_011535281.1:n.797-29dup
XM_011536980.1:c.796+188dup	XP_011535282.1:n.796+188dup
XM_011536981.1:c.984dup	XP_011535283.1:p.Asp329ArgfsTer16
XM_011536982.1:c.796+188dup	XP_011535284.1:n.796+188dup
XM_011536983.1:c.2025dup	XP_011535285.1:p.Asp676ArgfsTer16
XM_005267881.3:c.432dup	XP_005267938.1:p.Asp145ArgfsTer16
XM_017021473.1:c.984dup	XP_016876962.1:p.Asp329ArgfsTer16
XM_024449663.1:c.984dup	XP_024305431.1:p.Asp329ArgfsTer16
XM_024449664.1:c.984dup	XP_024305432.1:p.Asp329ArgfsTer16
XM_024449665.1:c.796+188dup	XP_024305433.1:n.796+188dup
XM_024449666.1:c.796+188dup	XP_024305434.1:n.796+188dup
NM_001377523.1:c.689-2710dup	NP_001364452.1:n.689-2710dup
NM_001377948.1:c.984dup	NP_001364877.1:p.Asp329ArgfsTer16
NM_001377949.1:c.796+188dup	NP_001364878.1:n.796+188dup
NM_001377950.1:c.689-2710dup	NP_001364879.1:n.689-2710dup
NM_001377951.1:c.191-2710dup	NP_001364880.1:n.191-2710dup
NM_020366.4:c.2058dup MANE Select	NP_065099.3:p.Asp687ArgfsTer16