Canonical Allele Identifier: CA2744619094

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060295_94060421del , CM000663.2:g.94060295_94060421del	GRCh38
NC_000001.10:g.94525851_94525977del , CM000663.1:g.94525851_94525977del	GRCh37
NC_000001.9:g.94298439_94298565del	NCBI36
NG_009073.1:g.65737_65863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2160+124_2160+250del MANE Select	ENSP00000359245.3:n.2160+124_2160+250del
ENST00000649773.1:c.2160+124_2160+250del	ENSP00000496882.1:n.2160+124_2160+250del
ENST00000370225.3:c.2160+124_2160+250del	ENSP00000359245.3:n.2160+124_2160+250del
ENST00000472033.1:n.280+124_280+250del
ENST00000536513.5:c.-65+2761_-65+2887del	ENSP00000439707.2:n.-65+2761_-65+2887del
NM_000350.2:c.2160+124_2160+250del	NP_000341.2:n.2160+124_2160+250del
NM_000350.3:c.2160+124_2160+250del MANE Select	NP_000341.2:n.2160+124_2160+250del