Canonical Allele Identifier: CA2744621230

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111673_94111677del , CM000663.2:g.94111673_94111677del	GRCh38
NC_000001.10:g.94577229_94577233del , CM000663.1:g.94577229_94577233del	GRCh37
NC_000001.9:g.94349817_94349821del	NCBI36
NG_009073.1:g.14473_14477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-98_161-94del MANE Select	ENSP00000359245.3:n.161-98_161-94del
ENST00000649773.1:c.161-98_161-94del	ENSP00000496882.1:n.161-98_161-94del
ENST00000370225.3:c.161-98_161-94del	ENSP00000359245.3:n.161-98_161-94del
NM_000350.2:c.161-98_161-94del	NP_000341.2:n.161-98_161-94del
NM_000350.3:c.161-98_161-94del MANE Select	NP_000341.2:n.161-98_161-94del