Canonical Allele Identifier: CA2744618625

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94051737_94051738insA , CM000663.2:g.94051737_94051738insA	GRCh38
NC_000001.10:g.94517293_94517294insA , CM000663.1:g.94517293_94517294insA	GRCh37
NC_000001.9:g.94289881_94289882insA	NCBI36
NG_009073.1:g.74412_74413insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2588-40_2588-39insT MANE Select	ENSP00000359245.3:n.2588-40_2588-39insT
ENST00000649773.1:c.2366-40_2366-39insT	ENSP00000496882.1:n.2366-40_2366-39insT
ENST00000370225.3:c.2588-40_2588-39insT	ENSP00000359245.3:n.2588-40_2588-39insT
ENST00000536513.5:c.-65+11436_-65+11437insT	ENSP00000439707.2:n.-65+11436_-65+11437insT
NM_000350.2:c.2588-40_2588-39insT	NP_000341.2:n.2588-40_2588-39insT
NM_000350.3:c.2588-40_2588-39insT MANE Select	NP_000341.2:n.2588-40_2588-39insT