Canonical Allele Identifier: CA2744613800

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998133del , CM000663.2:g.93998133del	GRCh38
NC_000001.10:g.94463689del , CM000663.1:g.94463689del	GRCh37
NC_000001.9:g.94236277del	NCBI36
NG_009073.1:g.128018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-22del MANE Select	ENSP00000359245.3:n.6480-22del
ENST00000370225.3:c.6480-22del	ENSP00000359245.3:n.6480-22del
ENST00000536513.5:c.2856-22del	ENSP00000439707.2:n.2856-22del
NM_000350.2:c.6480-22del	NP_000341.2:n.6480-22del
NM_000350.3:c.6480-22del MANE Select	NP_000341.2:n.6480-22del