Canonical Allele Identifier: CA2505808218

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041124_94041128del , CM000663.2:g.94041124_94041128del	GRCh38
NC_000001.10:g.94506680_94506684del , CM000663.1:g.94506680_94506684del	GRCh37
NC_000001.9:g.94279268_94279272del	NCBI36
NG_009073.1:g.85022_85026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+81_3522+85del MANE Select	ENSP00000359245.3:n.3522+81_3522+85del
ENST00000370225.3:c.3522+81_3522+85del	ENSP00000359245.3:n.3522+81_3522+85del
ENST00000536513.5:c.-64-1039_-64-1035del	ENSP00000439707.2:n.-64-1039_-64-1035del
NM_000350.2:c.3522+81_3522+85del	NP_000341.2:n.3522+81_3522+85del
NM_000350.3:c.3522+81_3522+85del MANE Select	NP_000341.2:n.3522+81_3522+85del