Canonical Allele Identifier: CA2697552511

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 2695192
• ClinVar RCV Id: RCV003541975

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043320_94043336del , CM000663.2:g.94043320_94043336del	GRCh38
NC_000001.10:g.94508876_94508892del , CM000663.1:g.94508876_94508892del	GRCh37
NC_000001.9:g.94281464_94281480del	NCBI36
NG_009073.1:g.82816_82832del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.3190+2_3190+18del
ENST00000370225.3:c.3190+2_3190+18del
ENST00000536513.5:c.-64-3245_-64-3229del	ENSP00000439707.2:n.-64-3245_-64-3229del
NM_000350.2:c.3190+2_3190+18del
NM_000350.3:c.3190+2_3190+18del