Canonical Allele Identifier: CA2744619121

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060828_94060846del , CM000663.2:g.94060828_94060846del	GRCh38
NC_000001.10:g.94526384_94526402del , CM000663.1:g.94526384_94526402del	GRCh37
NC_000001.9:g.94298972_94298990del	NCBI36
NG_009073.1:g.65304_65322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-87_1938-69del MANE Select	ENSP00000359245.3:n.1938-87_1938-69del
ENST00000649773.1:c.1938-87_1938-69del	ENSP00000496882.1:n.1938-87_1938-69del
ENST00000370225.3:c.1938-87_1938-69del	ENSP00000359245.3:n.1938-87_1938-69del
ENST00000472033.1:n.58-87_58-69del
ENST00000536513.5:c.-65+2328_-65+2346del	ENSP00000439707.2:n.-65+2328_-65+2346del
NM_000350.2:c.1938-87_1938-69del	NP_000341.2:n.1938-87_1938-69del
NM_000350.3:c.1938-87_1938-69del MANE Select	NP_000341.2:n.1938-87_1938-69del