Canonical Allele Identifier: CA2744619333

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062863_94062869del , CM000663.2:g.94062863_94062869del	GRCh38
NC_000001.10:g.94528419_94528425del , CM000663.1:g.94528419_94528425del	GRCh37
NC_000001.9:g.94301007_94301013del	NCBI36
NG_009073.1:g.63282_63288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-115_1761-109del MANE Select	ENSP00000359245.3:n.1761-115_1761-109del
ENST00000649773.1:c.1761-115_1761-109del	ENSP00000496882.1:n.1761-115_1761-109del
ENST00000370225.3:c.1761-115_1761-109del	ENSP00000359245.3:n.1761-115_1761-109del
ENST00000536513.5:c.-65+306_-65+312del	ENSP00000439707.2:n.-65+306_-65+312del
NM_000350.2:c.1761-115_1761-109del	NP_000341.2:n.1761-115_1761-109del
NM_000350.3:c.1761-115_1761-109del MANE Select	NP_000341.2:n.1761-115_1761-109del