Canonical Allele Identifier: CA2586964513

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421461_197421462insA , CM000663.2:g.197421461_197421462insA	GRCh38
NC_000001.10:g.197390591_197390592insA , CM000663.1:g.197390591_197390592insA	GRCh37
NC_000001.9:g.195657214_195657215insA	NCBI36
NG_008483.1:g.158184_158185insA
NG_008483.2:g.225000_225001insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1633_1634insA MANE Select	ENSP00000356370.3:p.Ser545TyrfsTer6
ENST00000638467.1:c.1633_1634insA	ENSP00000491102.1:p.Ser545TyrfsTer6
ENST00000681519.1:c.514_515insA	ENSP00000505267.1:p.Ser172TyrfsTer6
ENST00000367397.1:c.-225_-224insA	ENSP00000356367.1:n.-225_-224insA
ENST00000367399.6:c.1297_1298insA	ENSP00000356369.2:p.Ser433TyrfsTer6
ENST00000367400.7:c.1633_1634insA	ENSP00000356370.3:p.Ser545TyrfsTer6
ENST00000484075.5:c.1633_1634insA	ENSP00000433932.1:p.Ser545TyrfsTer6
ENST00000535699.5:c.1426_1427insA	ENSP00000438786.1:p.Ser476TyrfsTer6
ENST00000538660.5:c.1633_1634insA	ENSP00000438091.1:p.Ser545TyrfsTer6
NM_001193640.1:c.1297_1298insA	NP_001180569.1:p.Ser433TyrfsTer6
NM_001257965.1:c.1426_1427insA	NP_001244894.1:p.Ser476TyrfsTer6
NM_001257966.1:c.1633_1634insA	NP_001244895.1:p.Ser545TyrfsTer6
NM_201253.2:c.1633_1634insA	NP_957705.1:p.Ser545TyrfsTer6
NR_047563.1:n.1842_1843insA
NR_047564.1:n.1842_1843insA
XM_011509365.1:c.1633_1634insA	XP_011507667.1:p.Ser545TyrfsTer6
XM_011509366.1:c.1633_1634insA	XP_011507668.1:p.Ser545TyrfsTer6
XM_011509367.1:c.1633_1634insA	XP_011507669.1:p.Ser545TyrfsTer6
XM_011509368.1:c.1051_1052insA	XP_011507670.1:p.Ser351TyrfsTer6
XM_011509369.1:c.76_77insA	XP_011507671.1:p.Ser26TyrfsTer6
XM_011509365.2:c.1633_1634insA	XP_011507667.1:p.Ser545TyrfsTer6
XM_011509369.2:c.76_77insA	XP_011507671.1:p.Ser26TyrfsTer6
XM_017000851.1:c.790_791insA	XP_016856340.1:p.Ser264TyrfsTer6
XM_017000852.1:c.1633_1634insA	XP_016856341.1:p.Ser545TyrfsTer6
NM_201253.3:c.1633_1634insA MANE Select	NP_957705.1:p.Ser545TyrfsTer6
NM_001193640.2:c.1297_1298insA	NP_001180569.1:p.Ser433TyrfsTer6
NM_001257965.2:c.1426_1427insA	NP_001244894.1:p.Ser476TyrfsTer6
NR_047563.2:n.1794_1795insA
NR_047564.2:n.1794_1795insA
NM_001257966.2:c.1633_1634insA	NP_001244895.1:p.Ser545TyrfsTer6