Canonical Allele Identifier: CA2744615601

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021440_94021451del , CM000663.2:g.94021440_94021451del	GRCh38
NC_000001.10:g.94486996_94487007del , CM000663.1:g.94486996_94487007del	GRCh37
NC_000001.9:g.94259584_94259595del	NCBI36
NG_009073.1:g.104702_104713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-39_4849-28del MANE Select	ENSP00000359245.3:n.4849-39_4849-28del
ENST00000370225.3:c.4849-39_4849-28del	ENSP00000359245.3:n.4849-39_4849-28del
ENST00000460514.1:n.343-39_343-28del
ENST00000536513.5:c.1225-39_1225-28del	ENSP00000439707.2:n.1225-39_1225-28del
NM_000350.2:c.4849-39_4849-28del	NP_000341.2:n.4849-39_4849-28del
NM_000350.3:c.4849-39_4849-28del MANE Select	NP_000341.2:n.4849-39_4849-28del