Canonical Allele Identifier: CA1181406385

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997841_93997856delinsGTGCCCCAGGGCCAAC , CM000663.2:g.93997841_93997856delinsGTGCCCCAGGGCCAAC	GRCh38
NC_000001.10:g.94463397_94463412delinsGTGCCCCAGGGCCAAC , CM000663.1:g.94463397_94463412delinsGTGCCCCAGGGCCAAC	GRCh37
NC_000001.9:g.94235985_94236000delinsGTGCCCCAGGGCCAAC	NCBI36
NG_009073.1:g.128294_128309delinsGTTGGCCCTGGGGCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6729+5_6729+20delinsGTTGGCCCTGGGGCAC MANE Select	ENSP00000359245.3:n.6729+5_6729+20delinsGTTGGCCCTGGGGCAC
ENST00000370225.3:c.6729+5_6729+20delinsGTTGGCCCTGGGGCAC	ENSP00000359245.3:n.6729+5_6729+20delinsGTTGGCCCTGGGGCAC
ENST00000536513.5:c.3105+5_3105+20delinsGTTGGCCCTGGGGCAC	ENSP00000439707.2:n.3105+5_3105+20delinsGTTGGCCCTGGGGCAC
NM_000350.2:c.6729+5_6729+20delinsGTTGGCCCTGGGGCAC	NP_000341.2:n.6729+5_6729+20delinsGTTGGCCCTGGGGCAC
NM_000350.3:c.6729+5_6729+20delinsGTTGGCCCTGGGGCAC MANE Select	NP_000341.2:n.6729+5_6729+20delinsGTTGGCCCTGGGGCAC