Canonical Allele Identifier: CA2832528857

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421756_197421760dup , CM000663.2:g.197421756_197421760dup	GRCh38
NC_000001.10:g.197390886_197390890dup , CM000663.1:g.197390886_197390890dup	GRCh37
NC_000001.9:g.195657509_195657513dup	NCBI36
NG_008483.1:g.158479_158483dup
NG_008483.2:g.225295_225299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1928_1932dup MANE Select	ENSP00000356370.3:p.Asp645SerfsTer22
ENST00000638467.1:c.1928_1932dup	ENSP00000491102.1:p.Asp645SerfsTer22
ENST00000681519.1:c.809_813dup	ENSP00000505267.1:p.Asp272SerfsTer22
ENST00000367397.1:c.71_75dup	ENSP00000356367.1:p.Asp26SerfsTer22
ENST00000367399.6:c.1592_1596dup	ENSP00000356369.2:p.Asp533SerfsTer22
ENST00000367400.7:c.1928_1932dup	ENSP00000356370.3:p.Asp645SerfsTer22
ENST00000484075.5:c.1928_1932dup	ENSP00000433932.1:p.Asp645SerfsTer22
ENST00000535699.5:c.1721_1725dup	ENSP00000438786.1:p.Asp576SerfsTer22
ENST00000538660.5:c.1928_1932dup	ENSP00000438091.1:p.Asp645SerfsTer22
NM_001193640.1:c.1592_1596dup	NP_001180569.1:p.Asp533SerfsTer22
NM_001257965.1:c.1721_1725dup	NP_001244894.1:p.Asp576SerfsTer22
NM_001257966.1:c.1928_1932dup	NP_001244895.1:p.Asp645SerfsTer22
NM_201253.2:c.1928_1932dup	NP_957705.1:p.Asp645SerfsTer22
NR_047563.1:n.1929_1933dup
NR_047564.1:n.2137_2141dup
XM_011509365.1:c.1928_1932dup	XP_011507667.1:p.Asp645SerfsTer22
XM_011509366.1:c.1928_1932dup	XP_011507668.1:p.Asp645SerfsTer22
XM_011509367.1:c.1928_1932dup	XP_011507669.1:p.Asp645SerfsTer22
XM_011509368.1:c.1346_1350dup	XP_011507670.1:p.Asp451SerfsTer22
XM_011509369.1:c.371_375dup	XP_011507671.1:p.Asp126SerfsTer22
XM_011509365.2:c.1928_1932dup	XP_011507667.1:p.Asp645SerfsTer22
XM_011509369.2:c.371_375dup	XP_011507671.1:p.Asp126SerfsTer22
XM_017000851.1:c.1085_1089dup	XP_016856340.1:p.Asp364SerfsTer22
XM_017000852.1:c.1928_1932dup	XP_016856341.1:p.Asp645SerfsTer22
NM_201253.3:c.1928_1932dup MANE Select	NP_957705.1:p.Asp645SerfsTer22
NM_001193640.2:c.1592_1596dup	NP_001180569.1:p.Asp533SerfsTer22
NM_001257965.2:c.1721_1725dup	NP_001244894.1:p.Asp576SerfsTer22
NR_047563.2:n.1881_1885dup
NR_047564.2:n.2089_2093dup
NM_001257966.2:c.1928_1932dup	NP_001244895.1:p.Asp645SerfsTer22