Canonical Allele Identifier: CA2744615634

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021498_94021500del , CM000663.2:g.94021498_94021500del	GRCh38
NC_000001.10:g.94487054_94487056del , CM000663.1:g.94487054_94487056del	GRCh37
NC_000001.9:g.94259642_94259644del	NCBI36
NG_009073.1:g.104650_104652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-91_4849-89del MANE Select	ENSP00000359245.3:n.4849-91_4849-89del
ENST00000370225.3:c.4849-91_4849-89del	ENSP00000359245.3:n.4849-91_4849-89del
ENST00000460514.1:n.343-91_343-89del
ENST00000536513.5:c.1225-91_1225-89del	ENSP00000439707.2:n.1225-91_1225-89del
NM_000350.2:c.4849-91_4849-89del	NP_000341.2:n.4849-91_4849-89del
NM_000350.3:c.4849-91_4849-89del MANE Select	NP_000341.2:n.4849-91_4849-89del