Canonical Allele Identifier: CA1640627781

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489063_79489067delinsTAAAC , CM000668.2:g.79489063_79489067delinsTAAAC	GRCh38
NC_000006.11:g.80198780_80198784delinsTAAAC , CM000668.1:g.80198780_80198784delinsTAAAC	GRCh37
NC_000006.10:g.80255499_80255503delinsTAAAC	NCBI36
NG_016011.1:g.53364_53368delinsGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+17_1231+21delinsGTTTA MANE Select	ENSP00000358861.4:n.1231+17_1231+21delinsGTTTA
ENST00000369846.8:c.1231+17_1231+21delinsGTTTA	ENSP00000358861.4:n.1231+17_1231+21delinsGTTTA
ENST00000392959.5:c.1231+17_1231+21delinsGTTTA	ENSP00000376686.1:n.1231+17_1231+21delinsGTTTA
ENST00000467898.3:c.1248_1252delinsGTTTA	ENSP00000474463.1:p.Leu416=
NM_001122769.2:c.1231+17_1231+21delinsGTTTA	NP_001116241.1:n.1231+17_1231+21delinsGTTTA
NM_181714.3:c.1231+17_1231+21delinsGTTTA	NP_859065.2:n.1231+17_1231+21delinsGTTTA
XM_005248665.3:c.1231+17_1231+21delinsGTTTA	XP_005248722.1:n.1231+17_1231+21delinsGTTTA
XM_011535504.1:c.1231+17_1231+21delinsGTTTA	XP_011533806.1:n.1231+17_1231+21delinsGTTTA
XR_942715.1:n.1174_1178delinsTAAAC
XR_942716.1:n.1136_1140delinsTAAAC
XR_942717.1:n.1408_1412delinsTAAAC
XM_005248665.4:c.1231+17_1231+21delinsGTTTA	XP_005248722.1:n.1231+17_1231+21delinsGTTTA
XR_001744213.1:n.2799_2803delinsTAAAC
XR_001744214.1:n.2761_2765delinsTAAAC
NM_001122769.3:c.1231+17_1231+21delinsGTTTA MANE Select	NP_001116241.1:n.1231+17_1231+21delinsGTTTA
NM_181714.4:c.1231+17_1231+21delinsGTTTA	NP_859065.2:n.1231+17_1231+21delinsGTTTA