Canonical Allele Identifier: CA1640627788

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489071_79489072delinsCT , CM000668.2:g.79489071_79489072delinsCT	GRCh38
NC_000006.11:g.80198788_80198789delinsCT , CM000668.1:g.80198788_80198789delinsCT	GRCh37
NC_000006.10:g.80255507_80255508delinsCT	NCBI36
NG_016011.1:g.53359_53360delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369846.9:c.1231+12_1231+13delinsAG MANE Select	ENSP00000358861.4:n.1231+12_1231+13delinsAG
ENST00000369846.8:c.1231+12_1231+13delinsAG	ENSP00000358861.4:n.1231+12_1231+13delinsAG
ENST00000392959.5:c.1231+12_1231+13delinsAG	ENSP00000376686.1:n.1231+12_1231+13delinsAG
ENST00000467898.3:c.1243_1244delinsAG	ENSP00000474463.1:p.Ser415=
NM_001122769.2:c.1231+12_1231+13delinsAG	NP_001116241.1:n.1231+12_1231+13delinsAG
NM_181714.3:c.1231+12_1231+13delinsAG	NP_859065.2:n.1231+12_1231+13delinsAG
XM_005248665.3:c.1231+12_1231+13delinsAG	XP_005248722.1:n.1231+12_1231+13delinsAG
XM_011535504.1:c.1231+12_1231+13delinsAG	XP_011533806.1:n.1231+12_1231+13delinsAG
XR_942715.1:n.1182_1183delinsCT
XR_942716.1:n.1144_1145delinsCT
XR_942717.1:n.1416_1417delinsCT
XM_005248665.4:c.1231+12_1231+13delinsAG	XP_005248722.1:n.1231+12_1231+13delinsAG
XR_001744213.1:n.2807_2808delinsCT
XR_001744214.1:n.2769_2770delinsCT
NM_001122769.3:c.1231+12_1231+13delinsAG MANE Select	NP_001116241.1:n.1231+12_1231+13delinsAG
NM_181714.4:c.1231+12_1231+13delinsAG	NP_859065.2:n.1231+12_1231+13delinsAG