Canonical Allele Identifier: CA740454510
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1385754390
MyVariant Identifiers: chr1:g.94526038_94526039insG (hg19) chr1:g.94060482_94060483insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060486dup , CM000663.2:g.94060486dup GRCh38
NC_000001.10:g.94526042dup , CM000663.1:g.94526042dup GRCh37
NC_000001.9:g.94298630dup NCBI36
NG_009073.1:g.65667dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+54dup MANE Select ENSP00000359245.3:n.2160+54dup
ENST00000649773.1:c.2160+54dup ENSP00000496882.1:n.2160+54dup
ENST00000370225.3:c.2160+54dup ENSP00000359245.3:n.2160+54dup
ENST00000472033.1:n.280+54dup
ENST00000536513.5:c.-65+2691dup ENSP00000439707.2:n.-65+2691dup
NM_000350.2:c.2160+54dup NP_000341.2:n.2160+54dup
NM_000350.3:c.2160+54dup MANE Select NP_000341.2:n.2160+54dup
Search 100 bp 5'
Search 100 bp 3'