Canonical Allele Identifier: CA2744619179

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060881_94060882insCACACCCAACAC , CM000663.2:g.94060881_94060882insCACACCCAACAC	GRCh38
NC_000001.10:g.94526437_94526438insCACACCCAACAC , CM000663.1:g.94526437_94526438insCACACCCAACAC	GRCh37
NC_000001.9:g.94299025_94299026insCACACCCAACAC	NCBI36
NG_009073.1:g.65268_65269insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-123_1938-122insGTGTTGGGTGTG MANE Select	ENSP00000359245.3:n.1938-123_1938-122insGTGTTGGGTGTG
ENST00000649773.1:c.1938-123_1938-122insGTGTTGGGTGTG	ENSP00000496882.1:n.1938-123_1938-122insGTGTTGGGTGTG
ENST00000370225.3:c.1938-123_1938-122insGTGTTGGGTGTG	ENSP00000359245.3:n.1938-123_1938-122insGTGTTGGGTGTG
ENST00000472033.1:n.58-123_58-122insGTGTTGGGTGTG
ENST00000536513.5:c.-65+2292_-65+2293insGTGTTGGGTGTG	ENSP00000439707.2:n.-65+2292_-65+2293insGTGTTGGGTGTG
NM_000350.2:c.1938-123_1938-122insGTGTTGGGTGTG	NP_000341.2:n.1938-123_1938-122insGTGTTGGGTGTG
NM_000350.3:c.1938-123_1938-122insGTGTTGGGTGTG MANE Select	NP_000341.2:n.1938-123_1938-122insGTGTTGGGTGTG