Canonical Allele Identifier: CA2744613811

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998164_93998179del , CM000663.2:g.93998164_93998179del	GRCh38
NC_000001.10:g.94463720_94463735del , CM000663.1:g.94463720_94463735del	GRCh37
NC_000001.9:g.94236308_94236323del	NCBI36
NG_009073.1:g.127976_127991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-64_6480-49del MANE Select	ENSP00000359245.3:n.6480-64_6480-49del
ENST00000370225.3:c.6480-64_6480-49del	ENSP00000359245.3:n.6480-64_6480-49del
ENST00000536513.5:c.2856-64_2856-49del	ENSP00000439707.2:n.2856-64_2856-49del
NM_000350.2:c.6480-64_6480-49del	NP_000341.2:n.6480-64_6480-49del
NM_000350.3:c.6480-64_6480-49del MANE Select	NP_000341.2:n.6480-64_6480-49del