Canonical Allele Identifier: CA1181429990

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94067351_94067369delinsTCAGTGGCATTGCTGACTG , CM000663.2:g.94067351_94067369delinsTCAGTGGCATTGCTGACTG	GRCh38
NC_000001.10:g.94532907_94532925delinsTCAGTGGCATTGCTGACTG , CM000663.1:g.94532907_94532925delinsTCAGTGGCATTGCTGACTG	GRCh37
NC_000001.9:g.94305495_94305513delinsTCAGTGGCATTGCTGACTG	NCBI36
NG_009073.1:g.58781_58799delinsCAGTCAGCAATGCCACTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA MANE Select	ENSP00000359245.3:n.1555-4052_1555-4034delinsCAGTCAGCAATGCCAC...
ENST00000649773.1:c.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA	ENSP00000496882.1:n.1555-4052_1555-4034delinsCAGTCAGCAATGCCAC...
ENST00000370225.3:c.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA	ENSP00000359245.3:n.1555-4052_1555-4034delinsCAGTCAGCAATGCCAC...
NM_000350.2:c.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA	NP_000341.2:n.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA
NM_000350.3:c.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA MANE Select	NP_000341.2:n.1555-4052_1555-4034delinsCAGTCAGCAATGCCACTGA