Canonical Allele Identifier: CA1218063187

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421581_197421582delinsGA , CM000663.2:g.197421581_197421582delinsGA	GRCh38
NC_000001.10:g.197390711_197390712delinsGA , CM000663.1:g.197390711_197390712delinsGA	GRCh37
NC_000001.9:g.195657334_195657335delinsGA	NCBI36
NG_008483.1:g.158304_158305delinsGA
NG_008483.2:g.225120_225121delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1753_1754delinsGA MANE Select	ENSP00000356370.3:p.Asp585=
ENST00000638467.1:c.1753_1754delinsGA	ENSP00000491102.1:p.Asp585=
ENST00000681519.1:c.634_635delinsGA	ENSP00000505267.1:p.Asp212=
ENST00000367397.1:c.-105_-104delinsGA	ENSP00000356367.1:n.-105_-104delinsGA
ENST00000367399.6:c.1417_1418delinsGA	ENSP00000356369.2:p.Asp473=
ENST00000367400.7:c.1753_1754delinsGA	ENSP00000356370.3:p.Asp585=
ENST00000484075.5:c.1753_1754delinsGA	ENSP00000433932.1:p.Asp585=
ENST00000535699.5:c.1546_1547delinsGA	ENSP00000438786.1:p.Asp516=
ENST00000538660.5:c.1753_1754delinsGA	ENSP00000438091.1:p.Asp585=
NM_001193640.1:c.1417_1418delinsGA	NP_001180569.1:p.Asp473=
NM_001257965.1:c.1546_1547delinsGA	NP_001244894.1:p.Asp516=
NM_001257966.1:c.1753_1754delinsGA	NP_001244895.1:p.Asp585=
NM_201253.2:c.1753_1754delinsGA	NP_957705.1:p.Asp585=
NR_047563.1:n.1922+40_1922+41delinsGA
NR_047564.1:n.1962_1963delinsGA
XM_011509365.1:c.1753_1754delinsGA	XP_011507667.1:p.Asp585=
XM_011509366.1:c.1753_1754delinsGA	XP_011507668.1:p.Asp585=
XM_011509367.1:c.1753_1754delinsGA	XP_011507669.1:p.Asp585=
XM_011509368.1:c.1171_1172delinsGA	XP_011507670.1:p.Asp391=
XM_011509369.1:c.196_197delinsGA	XP_011507671.1:p.Asp66=
XM_011509365.2:c.1753_1754delinsGA	XP_011507667.1:p.Asp585=
XM_011509369.2:c.196_197delinsGA	XP_011507671.1:p.Asp66=
XM_017000851.1:c.910_911delinsGA	XP_016856340.1:p.Asp304=
XM_017000852.1:c.1753_1754delinsGA	XP_016856341.1:p.Asp585=
NM_201253.3:c.1753_1754delinsGA MANE Select	NP_957705.1:p.Asp585=
NM_001193640.2:c.1417_1418delinsGA	NP_001180569.1:p.Asp473=
NM_001257965.2:c.1546_1547delinsGA	NP_001244894.1:p.Asp516=
NR_047563.2:n.1874+40_1874+41delinsGA
NR_047564.2:n.1914_1915delinsGA
NM_001257966.2:c.1753_1754delinsGA	NP_001244895.1:p.Asp585=