Canonical Allele Identifier: CA740456012
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1239128684
gnomAD v3: 1-94062345-TACA-T
gnomAD v4: 1-94062345-TACA-T
MyVariant Identifiers: chr1:g.94527902_94527904del (hg19) chr1:g.94062346_94062348del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062349_94062351del , CM000663.2:g.94062349_94062351del GRCh38
NC_000001.10:g.94527905_94527907del , CM000663.1:g.94527905_94527907del GRCh37
NC_000001.9:g.94300493_94300495del NCBI36
NG_009073.1:g.63802_63804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+229_1937+231del MANE Select ENSP00000359245.3:n.1937+229_1937+231del
ENST00000649773.1:c.1937+229_1937+231del ENSP00000496882.1:n.1937+229_1937+231del
ENST00000370225.3:c.1937+229_1937+231del ENSP00000359245.3:n.1937+229_1937+231del
ENST00000536513.5:c.-65+826_-65+828del ENSP00000439707.2:n.-65+826_-65+828del
NM_000350.2:c.1937+229_1937+231del NP_000341.2:n.1937+229_1937+231del
NM_000350.3:c.1937+229_1937+231del MANE Select NP_000341.2:n.1937+229_1937+231del
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