Canonical Allele Identifier: CA2544571667

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046830_94046831del , CM000663.2:g.94046830_94046831del	GRCh38
NC_000001.10:g.94512386_94512387del , CM000663.1:g.94512386_94512387del	GRCh37
NC_000001.9:g.94284974_94284975del	NCBI36
NG_009073.1:g.79320_79321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2918+89_2918+90del MANE Select	ENSP00000359245.3:n.2918+89_2918+90del
ENST00000649773.1:c.2696+89_2696+90del	ENSP00000496882.1:n.2696+89_2696+90del
ENST00000370225.3:c.2918+89_2918+90del	ENSP00000359245.3:n.2918+89_2918+90del
ENST00000536513.5:c.-64-6741_-64-6740del	ENSP00000439707.2:n.-64-6741_-64-6740del
NM_000350.2:c.2918+89_2918+90del	NP_000341.2:n.2918+89_2918+90del
NM_000350.3:c.2918+89_2918+90del MANE Select	NP_000341.2:n.2918+89_2918+90del