Canonical Allele Identifier: CA2744621156

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111231_94111388del , CM000663.2:g.94111231_94111388del	GRCh38
NC_000001.10:g.94576787_94576944del , CM000663.1:g.94576787_94576944del	GRCh37
NC_000001.9:g.94349375_94349532del	NCBI36
NG_009073.1:g.14769_14926del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.302+57_302+214del MANE Select	ENSP00000359245.3:n.302+57_302+214del
ENST00000649773.1:c.302+57_302+214del	ENSP00000496882.1:n.302+57_302+214del
ENST00000370225.3:c.302+57_302+214del	ENSP00000359245.3:n.302+57_302+214del
NM_000350.2:c.302+57_302+214del	NP_000341.2:n.302+57_302+214del
NM_000350.3:c.302+57_302+214del MANE Select	NP_000341.2:n.302+57_302+214del