Canonical Allele Identifier: CA2744619164
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060860_94060861insAC , CM000663.2:g.94060860_94060861insAC GRCh38
NC_000001.10:g.94526416_94526417insAC , CM000663.1:g.94526416_94526417insAC GRCh37
NC_000001.9:g.94299004_94299005insAC NCBI36
NG_009073.1:g.65289_65290insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-102_1938-101insGT MANE Select ENSP00000359245.3:n.1938-102_1938-101insGT
ENST00000649773.1:c.1938-102_1938-101insGT ENSP00000496882.1:n.1938-102_1938-101insGT
ENST00000370225.3:c.1938-102_1938-101insGT ENSP00000359245.3:n.1938-102_1938-101insGT
ENST00000472033.1:n.58-102_58-101insGT
ENST00000536513.5:c.-65+2313_-65+2314insGT ENSP00000439707.2:n.-65+2313_-65+2314insGT
NM_000350.2:c.1938-102_1938-101insGT NP_000341.2:n.1938-102_1938-101insGT
NM_000350.3:c.1938-102_1938-101insGT MANE Select NP_000341.2:n.1938-102_1938-101insGT
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