Canonical Allele Identifier: CA1181428744

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062290_94062291delinsTC , CM000663.2:g.94062290_94062291delinsTC	GRCh38
NC_000001.10:g.94527846_94527847delinsTC , CM000663.1:g.94527846_94527847delinsTC	GRCh37
NC_000001.9:g.94300434_94300435delinsTC	NCBI36
NG_009073.1:g.63859_63860delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+286_1937+287delinsGA MANE Select	ENSP00000359245.3:n.1937+286_1937+287delinsGA
ENST00000649773.1:c.1937+286_1937+287delinsGA	ENSP00000496882.1:n.1937+286_1937+287delinsGA
ENST00000370225.3:c.1937+286_1937+287delinsGA	ENSP00000359245.3:n.1937+286_1937+287delinsGA
ENST00000536513.5:c.-65+883_-65+884delinsGA	ENSP00000439707.2:n.-65+883_-65+884delinsGA
NM_000350.2:c.1937+286_1937+287delinsGA	NP_000341.2:n.1937+286_1937+287delinsGA
NM_000350.3:c.1937+286_1937+287delinsGA MANE Select	NP_000341.2:n.1937+286_1937+287delinsGA