Canonical Allele Identifier: CA2574437811

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998128_93998132dup , CM000663.2:g.93998128_93998132dup	GRCh38
NC_000001.10:g.94463684_94463688dup , CM000663.1:g.94463684_94463688dup	GRCh37
NC_000001.9:g.94236272_94236276dup	NCBI36
NG_009073.1:g.128021_128025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-19_6480-15dup MANE Select	ENSP00000359245.3:n.6480-19_6480-15dup
ENST00000370225.3:c.6480-19_6480-15dup	ENSP00000359245.3:n.6480-19_6480-15dup
ENST00000536513.5:c.2856-19_2856-15dup	ENSP00000439707.2:n.2856-19_2856-15dup
NM_000350.2:c.6480-19_6480-15dup	NP_000341.2:n.6480-19_6480-15dup
NM_000350.3:c.6480-19_6480-15dup MANE Select	NP_000341.2:n.6480-19_6480-15dup