Canonical Allele Identifier: CA2744617488

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041510_94041511insGTG , CM000663.2:g.94041510_94041511insGTG	GRCh38
NC_000001.10:g.94507066_94507067insGTG , CM000663.1:g.94507066_94507067insGTG	GRCh37
NC_000001.9:g.94279654_94279655insGTG	NCBI36
NG_009073.1:g.84639_84640insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-109_3329-108insCAC MANE Select	ENSP00000359245.3:n.3329-109_3329-108insCAC
ENST00000370225.3:c.3329-109_3329-108insCAC	ENSP00000359245.3:n.3329-109_3329-108insCAC
ENST00000536513.5:c.-64-1422_-64-1421insCAC	ENSP00000439707.2:n.-64-1422_-64-1421insCAC
NM_000350.2:c.3329-109_3329-108insCAC	NP_000341.2:n.3329-109_3329-108insCAC
NM_000350.3:c.3329-109_3329-108insCAC MANE Select	NP_000341.2:n.3329-109_3329-108insCAC