Canonical Allele Identifier: CA26854659
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs562135033
gnomAD v2: 1-94496249-ACT-A
gnomAD v3: 1-94030693-ACT-A
gnomAD v4: 1-94030693-ACT-A
MyVariant Identifiers: chr1:g.94496250_94496251del (hg19) chr1:g.94030694_94030695del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030695_94030696del , CM000663.2:g.94030695_94030696del GRCh38
NC_000001.10:g.94496251_94496252del , CM000663.1:g.94496251_94496252del GRCh37
NC_000001.9:g.94268839_94268840del NCBI36
NG_009073.1:g.95455_95456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-169_4254-168del MANE Select ENSP00000359245.3:n.4254-169_4254-168del
ENST00000370225.3:c.4254-169_4254-168del ENSP00000359245.3:n.4254-169_4254-168del
ENST00000536513.5:c.630-169_630-168del ENSP00000439707.2:n.630-169_630-168del
NM_000350.2:c.4254-169_4254-168del NP_000341.2:n.4254-169_4254-168del
NM_000350.3:c.4254-169_4254-168del MANE Select NP_000341.2:n.4254-169_4254-168del
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