Canonical Allele Identifier: CA1181430071

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94067581_94067585delinsTTAAG , CM000663.2:g.94067581_94067585delinsTTAAG	GRCh38
NC_000001.10:g.94533137_94533141delinsTTAAG , CM000663.1:g.94533137_94533141delinsTTAAG	GRCh37
NC_000001.9:g.94305725_94305729delinsTTAAG	NCBI36
NG_009073.1:g.58565_58569delinsCTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1555-4268_1555-4264delinsCTTAA MANE Select	ENSP00000359245.3:n.1555-4268_1555-4264delinsCTTAA
ENST00000649773.1:c.1555-4268_1555-4264delinsCTTAA	ENSP00000496882.1:n.1555-4268_1555-4264delinsCTTAA
ENST00000370225.3:c.1555-4268_1555-4264delinsCTTAA	ENSP00000359245.3:n.1555-4268_1555-4264delinsCTTAA
NM_000350.2:c.1555-4268_1555-4264delinsCTTAA	NP_000341.2:n.1555-4268_1555-4264delinsCTTAA
NM_000350.3:c.1555-4268_1555-4264delinsCTTAA MANE Select	NP_000341.2:n.1555-4268_1555-4264delinsCTTAA