Canonical Allele Identifier: CA2744619349

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062900_94062903del , CM000663.2:g.94062900_94062903del	GRCh38
NC_000001.10:g.94528456_94528459del , CM000663.1:g.94528456_94528459del	GRCh37
NC_000001.9:g.94301044_94301047del	NCBI36
NG_009073.1:g.63247_63250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-150_1761-147del MANE Select	ENSP00000359245.3:n.1761-150_1761-147del
ENST00000649773.1:c.1761-150_1761-147del	ENSP00000496882.1:n.1761-150_1761-147del
ENST00000370225.3:c.1761-150_1761-147del	ENSP00000359245.3:n.1761-150_1761-147del
ENST00000536513.5:c.-65+271_-65+274del	ENSP00000439707.2:n.-65+271_-65+274del
NM_000350.2:c.1761-150_1761-147del	NP_000341.2:n.1761-150_1761-147del
NM_000350.3:c.1761-150_1761-147del MANE Select	NP_000341.2:n.1761-150_1761-147del