Canonical Allele Identifier: CA740506573
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1450970155
MyVariant Identifiers: chr1:g.94476967_94476968insA (hg19) chr1:g.94011411_94011412insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011414dup , CM000663.2:g.94011414dup GRCh38
NC_000001.10:g.94476970dup , CM000663.1:g.94476970dup GRCh37
NC_000001.9:g.94249558dup NCBI36
NG_009073.1:g.114738dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5461-27dup MANE Select ENSP00000359245.3:n.5461-27dup
ENST00000370225.3:c.5461-27dup ENSP00000359245.3:n.5461-27dup
ENST00000536513.5:c.1837-27dup ENSP00000439707.2:n.1837-27dup
NM_000350.2:c.5461-27dup NP_000341.2:n.5461-27dup
NM_000350.3:c.5461-27dup MANE Select NP_000341.2:n.5461-27dup
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