Canonical Allele Identifier: CA2744618623

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94051735del , CM000663.2:g.94051735del	GRCh38
NC_000001.10:g.94517291del , CM000663.1:g.94517291del	GRCh37
NC_000001.9:g.94289879del	NCBI36
NG_009073.1:g.74416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2588-36del MANE Select	ENSP00000359245.3:n.2588-36del
ENST00000649773.1:c.2366-36del	ENSP00000496882.1:n.2366-36del
ENST00000370225.3:c.2588-36del	ENSP00000359245.3:n.2588-36del
ENST00000536513.5:c.-65+11440del	ENSP00000439707.2:n.-65+11440del
NM_000350.2:c.2588-36del	NP_000341.2:n.2588-36del
NM_000350.3:c.2588-36del MANE Select	NP_000341.2:n.2588-36del