Canonical Allele Identifier: CA1218063214

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421639_197421640delinsCA , CM000663.2:g.197421639_197421640delinsCA	GRCh38
NC_000001.10:g.197390769_197390770delinsCA , CM000663.1:g.197390769_197390770delinsCA	GRCh37
NC_000001.9:g.195657392_195657393delinsCA	NCBI36
NG_008483.1:g.158362_158363delinsCA
NG_008483.2:g.225178_225179delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1811_1812delinsCA MANE Select	ENSP00000356370.3:p.Ser604=
ENST00000638467.1:c.1811_1812delinsCA	ENSP00000491102.1:p.Ser604=
ENST00000681519.1:c.692_693delinsCA	ENSP00000505267.1:p.Ser231=
ENST00000367397.1:c.-47_-46delinsCA	ENSP00000356367.1:n.-47_-46delinsCA
ENST00000367399.6:c.1475_1476delinsCA	ENSP00000356369.2:p.Ser492=
ENST00000367400.7:c.1811_1812delinsCA	ENSP00000356370.3:p.Ser604=
ENST00000484075.5:c.1811_1812delinsCA	ENSP00000433932.1:p.Ser604=
ENST00000535699.5:c.1604_1605delinsCA	ENSP00000438786.1:p.Ser535=
ENST00000538660.5:c.1811_1812delinsCA	ENSP00000438091.1:p.Ser604=
NM_001193640.1:c.1475_1476delinsCA	NP_001180569.1:p.Ser492=
NM_001257965.1:c.1604_1605delinsCA	NP_001244894.1:p.Ser535=
NM_001257966.1:c.1811_1812delinsCA	NP_001244895.1:p.Ser604=
NM_201253.2:c.1811_1812delinsCA	NP_957705.1:p.Ser604=
NR_047563.1:n.1922+98_1922+99delinsCA
NR_047564.1:n.2020_2021delinsCA
XM_011509365.1:c.1811_1812delinsCA	XP_011507667.1:p.Ser604=
XM_011509366.1:c.1811_1812delinsCA	XP_011507668.1:p.Ser604=
XM_011509367.1:c.1811_1812delinsCA	XP_011507669.1:p.Ser604=
XM_011509368.1:c.1229_1230delinsCA	XP_011507670.1:p.Ser410=
XM_011509369.1:c.254_255delinsCA	XP_011507671.1:p.Ser85=
XM_011509365.2:c.1811_1812delinsCA	XP_011507667.1:p.Ser604=
XM_011509369.2:c.254_255delinsCA	XP_011507671.1:p.Ser85=
XM_017000851.1:c.968_969delinsCA	XP_016856340.1:p.Ser323=
XM_017000852.1:c.1811_1812delinsCA	XP_016856341.1:p.Ser604=
NM_201253.3:c.1811_1812delinsCA MANE Select	NP_957705.1:p.Ser604=
NM_001193640.2:c.1475_1476delinsCA	NP_001180569.1:p.Ser492=
NM_001257965.2:c.1604_1605delinsCA	NP_001244894.1:p.Ser535=
NR_047563.2:n.1874+98_1874+99delinsCA
NR_047564.2:n.1972_1973delinsCA
NM_001257966.2:c.1811_1812delinsCA	NP_001244895.1:p.Ser604=