Canonical Allele Identifier: CA2744617878

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043590_94043591insA , CM000663.2:g.94043590_94043591insA	GRCh38
NC_000001.10:g.94509146_94509147insA , CM000663.1:g.94509146_94509147insA	GRCh37
NC_000001.9:g.94281734_94281735insA	NCBI36
NG_009073.1:g.82559_82560insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-116_3051-115insT MANE Select	ENSP00000359245.3:n.3051-116_3051-115insT
ENST00000370225.3:c.3051-116_3051-115insT	ENSP00000359245.3:n.3051-116_3051-115insT
ENST00000536513.5:c.-64-3502_-64-3501insT	ENSP00000439707.2:n.-64-3502_-64-3501insT
NM_000350.2:c.3051-116_3051-115insT	NP_000341.2:n.3051-116_3051-115insT
NM_000350.3:c.3051-116_3051-115insT MANE Select	NP_000341.2:n.3051-116_3051-115insT