Canonical Allele Identifier: CA2744619105
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060795_94060796insA , CM000663.2:g.94060795_94060796insA GRCh38
NC_000001.10:g.94526351_94526352insA , CM000663.1:g.94526351_94526352insA GRCh37
NC_000001.9:g.94298939_94298940insA NCBI36
NG_009073.1:g.65354_65355insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-37_1938-36insT MANE Select ENSP00000359245.3:n.1938-37_1938-36insT
ENST00000649773.1:c.1938-37_1938-36insT ENSP00000496882.1:n.1938-37_1938-36insT
ENST00000370225.3:c.1938-37_1938-36insT ENSP00000359245.3:n.1938-37_1938-36insT
ENST00000472033.1:n.58-37_58-36insT
ENST00000536513.5:c.-65+2378_-65+2379insT ENSP00000439707.2:n.-65+2378_-65+2379insT
NM_000350.2:c.1938-37_1938-36insT NP_000341.2:n.1938-37_1938-36insT
NM_000350.3:c.1938-37_1938-36insT MANE Select NP_000341.2:n.1938-37_1938-36insT
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