Canonical Allele Identifier: CA2744619181
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060885_94060892del , CM000663.2:g.94060885_94060892del GRCh38
NC_000001.10:g.94526441_94526448del , CM000663.1:g.94526441_94526448del GRCh37
NC_000001.9:g.94299029_94299036del NCBI36
NG_009073.1:g.65258_65265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-133_1938-126del MANE Select ENSP00000359245.3:n.1938-133_1938-126del
ENST00000649773.1:c.1938-133_1938-126del ENSP00000496882.1:n.1938-133_1938-126del
ENST00000370225.3:c.1938-133_1938-126del ENSP00000359245.3:n.1938-133_1938-126del
ENST00000472033.1:n.58-133_58-126del
ENST00000536513.5:c.-65+2282_-65+2289del ENSP00000439707.2:n.-65+2282_-65+2289del
NM_000350.2:c.1938-133_1938-126del NP_000341.2:n.1938-133_1938-126del
NM_000350.3:c.1938-133_1938-126del MANE Select NP_000341.2:n.1938-133_1938-126del