Canonical Allele Identifier: CA2744615620

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021474_94021475del , CM000663.2:g.94021474_94021475del	GRCh38
NC_000001.10:g.94487030_94487031del , CM000663.1:g.94487030_94487031del	GRCh37
NC_000001.9:g.94259618_94259619del	NCBI36
NG_009073.1:g.104675_104676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-66_4849-65del MANE Select	ENSP00000359245.3:n.4849-66_4849-65del
ENST00000370225.3:c.4849-66_4849-65del	ENSP00000359245.3:n.4849-66_4849-65del
ENST00000460514.1:n.343-66_343-65del
ENST00000536513.5:c.1225-66_1225-65del	ENSP00000439707.2:n.1225-66_1225-65del
NM_000350.2:c.4849-66_4849-65del	NP_000341.2:n.4849-66_4849-65del
NM_000350.3:c.4849-66_4849-65del MANE Select	NP_000341.2:n.4849-66_4849-65del