Canonical Allele Identifier: CA2744619259

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062789_94062794del , CM000663.2:g.94062789_94062794del	GRCh38
NC_000001.10:g.94528345_94528350del , CM000663.1:g.94528345_94528350del	GRCh37
NC_000001.9:g.94300933_94300938del	NCBI36
NG_009073.1:g.63358_63363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-39_1761-34del MANE Select	ENSP00000359245.3:n.1761-39_1761-34del
ENST00000649773.1:c.1761-39_1761-34del	ENSP00000496882.1:n.1761-39_1761-34del
ENST00000370225.3:c.1761-39_1761-34del	ENSP00000359245.3:n.1761-39_1761-34del
ENST00000536513.5:c.-65+382_-65+387del	ENSP00000439707.2:n.-65+382_-65+387del
NM_000350.2:c.1761-39_1761-34del	NP_000341.2:n.1761-39_1761-34del
NM_000350.3:c.1761-39_1761-34del MANE Select	NP_000341.2:n.1761-39_1761-34del