Canonical Allele Identifier: CA2553993491

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998133_93998134insTGC , CM000663.2:g.93998133_93998134insTGC	GRCh38
NC_000001.10:g.94463689_94463690insTGC , CM000663.1:g.94463689_94463690insTGC	GRCh37
NC_000001.9:g.94236277_94236278insTGC	NCBI36
NG_009073.1:g.128016_128017insGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-24_6480-23insGCA MANE Select	ENSP00000359245.3:n.6480-24_6480-23insGCA
ENST00000370225.3:c.6480-24_6480-23insGCA	ENSP00000359245.3:n.6480-24_6480-23insGCA
ENST00000536513.5:c.2856-24_2856-23insGCA	ENSP00000439707.2:n.2856-24_2856-23insGCA
NM_000350.2:c.6480-24_6480-23insGCA	NP_000341.2:n.6480-24_6480-23insGCA
NM_000350.3:c.6480-24_6480-23insGCA MANE Select	NP_000341.2:n.6480-24_6480-23insGCA