Canonical Allele Identifier: CA2800825364

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321667_21321855del , CM000676.2:g.21321667_21321855del	GRCh38
NC_000014.8:g.21789826_21790014del , CM000676.1:g.21789826_21790014del	GRCh37
NC_000014.7:g.20859666_20859854del	NCBI36
NG_008933.1:g.38691_38879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1612-187_1613del
ENST00000382933.8:c.538-187_539del
ENST00000400017.6:c.1612-187_1613del
ENST00000553500.5:n.70-187_71del
ENST00000554303.1:c.31-187_32del
ENST00000555322.5:c.148+161_149-2del
ENST00000555587.5:c.40-190_40-2del	ENSP00000451262.1:n.40-190_40-2del
ENST00000556336.5:c.1531-187_1532del
ENST00000557771.5:c.1531-187_1532del
NM_020366.3:c.1612-187_1613del
XM_005267879.2:c.538-187_539del
XM_005267880.2:c.538-187_539del
XM_005267881.2:c.-16+161_-14del
XM_011536978.1:c.538-187_539del
XM_011536979.1:c.538-187_539del
XM_011536980.1:c.538-187_539del
XM_011536981.1:c.538-187_539del
XM_011536982.1:c.538-187_539del
XM_011536983.1:c.1579-187_1580del
XM_005267881.3:c.-16+161_-14del
XM_017021473.1:c.538-187_539del
XM_024449663.1:c.538-187_539del
XM_024449664.1:c.538-187_539del
XM_024449665.1:c.538-187_539del
XM_024449666.1:c.538-187_539del
NM_001377523.1:c.538-187_539del
NM_001377948.1:c.538-187_539del
NM_001377949.1:c.538-187_539del
NM_001377950.1:c.538-187_539del
NM_001377951.1:c.40-187_41del
NM_020366.4:c.1612-187_1613del