Canonical Allele Identifier: CA2744613832

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998186_93998193del , CM000663.2:g.93998186_93998193del	GRCh38
NC_000001.10:g.94463742_94463749del , CM000663.1:g.94463742_94463749del	GRCh37
NC_000001.9:g.94236330_94236337del	NCBI36
NG_009073.1:g.127957_127964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-83_6480-76del MANE Select	ENSP00000359245.3:n.6480-83_6480-76del
ENST00000370225.3:c.6480-83_6480-76del	ENSP00000359245.3:n.6480-83_6480-76del
ENST00000536513.5:c.2856-83_2856-76del	ENSP00000439707.2:n.2856-83_2856-76del
NM_000350.2:c.6480-83_6480-76del	NP_000341.2:n.6480-83_6480-76del
NM_000350.3:c.6480-83_6480-76del MANE Select	NP_000341.2:n.6480-83_6480-76del