Canonical Allele Identifier: CA7089051
Community Standard Title: NM_020366.4(RPGRIP1):c.1713dup (p.Ile572TyrfsTer12)
Gene: RPGRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21321955dup , CM000676.2:g.21321955dup GRCh38
NC_000014.8:g.21790114dup , CM000676.1:g.21790114dup GRCh37
NC_000014.7:g.20859954dup NCBI36
NG_008933.1:g.38979dup

Transcript Alleles

HGVS Amino-acid Change
NM_020366.4:c.1713dup MANE Select NP_065099.3:p.Ile572TyrfsTer12
ENST00000400017.7:c.1713dup MANE Select ENSP00000382895.2:p.Ile572TyrfsTer12
NM_001377523.1:c.639dup NP_001364452.1:p.Ile214TyrfsTer12
NM_001377948.1:c.639dup NP_001364877.1:p.Ile214TyrfsTer12
NM_001377949.1:c.639dup NP_001364878.1:p.Ile214TyrfsTer12
NM_001377950.1:c.639dup NP_001364879.1:p.Ile214TyrfsTer12
NM_001377951.1:c.141dup NP_001364880.1:p.Ile48TyrfsTer12
NM_020366.3:c.1713dup NP_065099.3:p.Ile572TyrfsTer12
ENST00000382933.8:c.639dup ENSP00000372391.4:p.Ile214TyrfsTer12
ENST00000400017.6:c.1713dup ENSP00000382895.2:p.Ile572TyrfsTer12
ENST00000553500.5:n.171dup
ENST00000554303.1:c.132dup ENSP00000450426.1:p.Ile45TyrfsTer?
ENST00000555322.5:c.247dup
ENST00000555489.5:c.39dup ENSP00000451044.1:p.Ile14TyrfsTer15
ENST00000555587.5:c.138dup ENSP00000451262.1:p.Ile47TyrfsTer12
ENST00000556336.5:c.1632dup ENSP00000450445.1:p.Ile545TyrfsTer12
ENST00000557771.5:c.1632dup ENSP00000451219.1:p.Ile545TyrfsTer?
XM_005267879.2:c.639dup XP_005267936.1:p.Ile214TyrfsTer12
XM_005267880.2:c.639dup XP_005267937.1:p.Ile214TyrfsTer?
XM_005267881.2:c.87dup XP_005267938.1:p.Ile30TyrfsTer12
XM_005267881.3:c.87dup XP_005267938.1:p.Ile30TyrfsTer12
XM_011536978.1:c.639dup XP_011535280.1:p.Ile214TyrfsTer12
XM_011536979.1:c.639dup XP_011535281.1:p.Ile214TyrfsTer12
XM_011536980.1:c.639dup XP_011535282.1:p.Ile214TyrfsTer12
XM_011536981.1:c.639dup XP_011535283.1:p.Ile214TyrfsTer12
XM_011536982.1:c.639dup XP_011535284.1:p.Ile214TyrfsTer12
XM_011536983.1:c.1680dup XP_011535285.1:p.Ile561TyrfsTer12
XM_017021473.1:c.639dup XP_016876962.1:p.Ile214TyrfsTer12
XM_024449663.1:c.639dup XP_024305431.1:p.Ile214TyrfsTer12
XM_024449664.1:c.639dup XP_024305432.1:p.Ile214TyrfsTer12
XM_024449665.1:c.639dup XP_024305433.1:p.Ile214TyrfsTer12
XM_024449666.1:c.639dup XP_024305434.1:p.Ile214TyrfsTer12