Canonical Allele Identifier: CA1218068756

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435005_197435017delinsACCTCCAGGTGGC , CM000663.2:g.197435005_197435017delinsACCTCCAGGTGGC	GRCh38
NC_000001.10:g.197404135_197404147delinsACCTCCAGGTGGC , CM000663.1:g.197404135_197404147delinsACCTCCAGGTGGC	GRCh37
NC_000001.9:g.195670758_195670770delinsACCTCCAGGTGGC	NCBI36
NG_008483.1:g.171728_171740delinsACCTCCAGGTGGC
NG_008483.2:g.238544_238556delinsACCTCCAGGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3142_3154delinsACCTCCAGGTGGC MANE Select	ENSP00000356370.3:p.Thr1048=
ENST00000638467.1:c.3142_3154delinsACCTCCAGGTGGC	ENSP00000491102.1:p.Thr1048=
ENST00000681519.1:c.2023_2035delinsACCTCCAGGTGGC	ENSP00000505267.1:p.Thr675=
ENST00000367397.1:c.1285_1297delinsACCTCCAGGTGGC	ENSP00000356367.1:p.Thr429=
ENST00000367399.6:c.2806_2818delinsACCTCCAGGTGGC	ENSP00000356369.2:p.Thr936=
ENST00000367400.7:c.3142_3154delinsACCTCCAGGTGGC	ENSP00000356370.3:p.Thr1048=
ENST00000484075.5:c.3142_3154delinsACCTCCAGGTGGC	ENSP00000433932.1:p.Thr1048=
ENST00000535699.5:c.3070_3082delinsACCTCCAGGTGGC	ENSP00000438786.1:p.Thr1024=
ENST00000538660.5:c.2129-595_2129-583delinsACCTCCAGGTGGC	ENSP00000438091.1:n.2129-595_2129-583delinsACCTCCAGGTGGC
NM_001193640.1:c.2806_2818delinsACCTCCAGGTGGC	NP_001180569.1:p.Thr936=
NM_001257965.1:c.3070_3082delinsACCTCCAGGTGGC	NP_001244894.1:p.Thr1024=
NM_001257966.1:c.2129-595_2129-583delinsACCTCCAGGTGGC	NP_001244895.1:n.2129-595_2129-583delinsACCTCCAGGTGGC
NM_201253.2:c.3142_3154delinsACCTCCAGGTGGC	NP_957705.1:p.Thr1048=
NR_047563.1:n.3143_3155delinsACCTCCAGGTGGC
NR_047564.1:n.3351_3363delinsACCTCCAGGTGGC
XM_011509365.1:c.3142_3154delinsACCTCCAGGTGGC	XP_011507667.1:p.Thr1048=
XM_011509366.1:c.3142_3154delinsACCTCCAGGTGGC	XP_011507668.1:p.Thr1048=
XM_011509367.1:c.3142_3154delinsACCTCCAGGTGGC	XP_011507669.1:p.Thr1048=
XM_011509368.1:c.2560_2572delinsACCTCCAGGTGGC	XP_011507670.1:p.Thr854=
XM_011509369.1:c.1585_1597delinsACCTCCAGGTGGC	XP_011507671.1:p.Thr529=
XM_011509365.2:c.3142_3154delinsACCTCCAGGTGGC	XP_011507667.1:p.Thr1048=
XM_011509369.2:c.1585_1597delinsACCTCCAGGTGGC	XP_011507671.1:p.Thr529=
XM_017000851.1:c.2299_2311delinsACCTCCAGGTGGC	XP_016856340.1:p.Thr767=
XM_017000852.1:c.3277_3289delinsACCTCCAGGTGGC	XP_016856341.1:p.Thr1093=
NM_201253.3:c.3142_3154delinsACCTCCAGGTGGC MANE Select	NP_957705.1:p.Thr1048=
NM_001193640.2:c.2806_2818delinsACCTCCAGGTGGC	NP_001180569.1:p.Thr936=
NM_001257965.2:c.3070_3082delinsACCTCCAGGTGGC	NP_001244894.1:p.Thr1024=
NR_047563.2:n.3095_3107delinsACCTCCAGGTGGC
NR_047564.2:n.3303_3315delinsACCTCCAGGTGGC
NM_001257966.2:c.2129-595_2129-583delinsACCTCCAGGTGGC	NP_001244895.1:n.2129-595_2129-583delinsACCTCCAGGTGGC