Canonical Allele Identifier: CA2744617486

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041510_94041511insGTC , CM000663.2:g.94041510_94041511insGTC	GRCh38
NC_000001.10:g.94507066_94507067insGTC , CM000663.1:g.94507066_94507067insGTC	GRCh37
NC_000001.9:g.94279654_94279655insGTC	NCBI36
NG_009073.1:g.84639_84640insGAC

Transcript Alleles

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