Canonical Allele Identifier: CA2744613801

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998135_93998137del , CM000663.2:g.93998135_93998137del	GRCh38
NC_000001.10:g.94463691_94463693del , CM000663.1:g.94463691_94463693del	GRCh37
NC_000001.9:g.94236279_94236281del	NCBI36
NG_009073.1:g.128013_128015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-27_6480-25del MANE Select	ENSP00000359245.3:n.6480-27_6480-25del
ENST00000370225.3:c.6480-27_6480-25del	ENSP00000359245.3:n.6480-27_6480-25del
ENST00000536513.5:c.2856-27_2856-25del	ENSP00000439707.2:n.2856-27_2856-25del
NM_000350.2:c.6480-27_6480-25del	NP_000341.2:n.6480-27_6480-25del
NM_000350.3:c.6480-27_6480-25del MANE Select	NP_000341.2:n.6480-27_6480-25del