Canonical Allele Identifier: CA1640627791

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489073_79489075delinsCTT , CM000668.2:g.79489073_79489075delinsCTT	GRCh38
NC_000006.11:g.80198790_80198792delinsCTT , CM000668.1:g.80198790_80198792delinsCTT	GRCh37
NC_000006.10:g.80255509_80255511delinsCTT	NCBI36
NG_016011.1:g.53356_53358delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+9_1231+11delinsAAG MANE Select	ENSP00000358861.4:n.1231+9_1231+11delinsAAG
ENST00000369846.8:c.1231+9_1231+11delinsAAG	ENSP00000358861.4:n.1231+9_1231+11delinsAAG
ENST00000392959.5:c.1231+9_1231+11delinsAAG	ENSP00000376686.1:n.1231+9_1231+11delinsAAG
ENST00000467898.3:c.1240_1242delinsAAG	ENSP00000474463.1:p.Lys414=
NM_001122769.2:c.1231+9_1231+11delinsAAG	NP_001116241.1:n.1231+9_1231+11delinsAAG
NM_181714.3:c.1231+9_1231+11delinsAAG	NP_859065.2:n.1231+9_1231+11delinsAAG
XM_005248665.3:c.1231+9_1231+11delinsAAG	XP_005248722.1:n.1231+9_1231+11delinsAAG
XM_011535504.1:c.1231+9_1231+11delinsAAG	XP_011533806.1:n.1231+9_1231+11delinsAAG
XR_942715.1:n.1184_1186delinsCTT
XR_942716.1:n.1146_1148delinsCTT
XR_942717.1:n.1418_1420delinsCTT
XM_005248665.4:c.1231+9_1231+11delinsAAG	XP_005248722.1:n.1231+9_1231+11delinsAAG
XR_001744213.1:n.2809_2811delinsCTT
XR_001744214.1:n.2771_2773delinsCTT
NM_001122769.3:c.1231+9_1231+11delinsAAG MANE Select	NP_001116241.1:n.1231+9_1231+11delinsAAG
NM_181714.4:c.1231+9_1231+11delinsAAG	NP_859065.2:n.1231+9_1231+11delinsAAG