Canonical Allele Identifier: CA2574438517

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062475_94062478del , CM000663.2:g.94062475_94062478del	GRCh38
NC_000001.10:g.94528031_94528034del , CM000663.1:g.94528031_94528034del	GRCh37
NC_000001.9:g.94300619_94300622del	NCBI36
NG_009073.1:g.63672_63675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+99_1937+102del MANE Select	ENSP00000359245.3:n.1937+99_1937+102del
ENST00000649773.1:c.1937+99_1937+102del	ENSP00000496882.1:n.1937+99_1937+102del
ENST00000370225.3:c.1937+99_1937+102del	ENSP00000359245.3:n.1937+99_1937+102del
ENST00000536513.5:c.-65+696_-65+699del	ENSP00000439707.2:n.-65+696_-65+699del
NM_000350.2:c.1937+99_1937+102del	NP_000341.2:n.1937+99_1937+102del
NM_000350.3:c.1937+99_1937+102del MANE Select	NP_000341.2:n.1937+99_1937+102del