Canonical Allele Identifier: CA2586967864

Gene: CRB1

Linked Data

• ClinVar Variation Id: 2946448
• ClinVar RCV Id: RCV003808686

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434918_197434922dup , CM000663.2:g.197434918_197434922dup	GRCh38
NC_000001.10:g.197404048_197404052dup , CM000663.1:g.197404048_197404052dup	GRCh37
NC_000001.9:g.195670671_195670675dup	NCBI36
NG_008483.1:g.171641_171645dup
NG_008483.2:g.238457_238461dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3055_3059dup MANE Select	ENSP00000356370.3:p.Met1020IlefsTer4
ENST00000638467.1:c.3055_3059dup	ENSP00000491102.1:p.Met1020IlefsTer4
ENST00000681519.1:c.1936_1940dup	ENSP00000505267.1:p.Met647IlefsTer4
ENST00000367397.1:c.1198_1202dup	ENSP00000356367.1:p.Met401IlefsTer4
ENST00000367399.6:c.2719_2723dup	ENSP00000356369.2:p.Met908IlefsTer4
ENST00000367400.7:c.3055_3059dup	ENSP00000356370.3:p.Met1020IlefsTer4
ENST00000484075.5:c.3055_3059dup	ENSP00000433932.1:p.Met1020IlefsTer4
ENST00000535699.5:c.2983_2987dup	ENSP00000438786.1:p.Met996IlefsTer4
ENST00000538660.5:c.2129-682_2129-678dup	ENSP00000438091.1:n.2129-682_2129-678dup
NM_001193640.1:c.2719_2723dup	NP_001180569.1:p.Met908IlefsTer4
NM_001257965.1:c.2983_2987dup	NP_001244894.1:p.Met996IlefsTer4
NM_001257966.1:c.2129-682_2129-678dup	NP_001244895.1:n.2129-682_2129-678dup
NM_201253.2:c.3055_3059dup	NP_957705.1:p.Met1020IlefsTer4
NR_047563.1:n.3056_3060dup
NR_047564.1:n.3264_3268dup
XM_011509365.1:c.3055_3059dup	XP_011507667.1:p.Met1020IlefsTer4
XM_011509366.1:c.3055_3059dup	XP_011507668.1:p.Met1020IlefsTer4
XM_011509367.1:c.3055_3059dup	XP_011507669.1:p.Met1020IlefsTer4
XM_011509368.1:c.2473_2477dup	XP_011507670.1:p.Met826IlefsTer4
XM_011509369.1:c.1498_1502dup	XP_011507671.1:p.Met501IlefsTer4
XM_011509365.2:c.3055_3059dup	XP_011507667.1:p.Met1020IlefsTer4
XM_011509369.2:c.1498_1502dup	XP_011507671.1:p.Met501IlefsTer4
XM_017000851.1:c.2212_2216dup	XP_016856340.1:p.Met739IlefsTer4
XM_017000852.1:c.3190_3194dup	XP_016856341.1:p.Met1065IlefsTer4
NM_201253.3:c.3055_3059dup MANE Select	NP_957705.1:p.Met1020IlefsTer4
NM_001193640.2:c.2719_2723dup	NP_001180569.1:p.Met908IlefsTer4
NM_001257965.2:c.2983_2987dup	NP_001244894.1:p.Met996IlefsTer4
NR_047563.2:n.3008_3012dup
NR_047564.2:n.3216_3220dup
NM_001257966.2:c.2129-682_2129-678dup	NP_001244895.1:n.2129-682_2129-678dup