Canonical Allele Identifier: CA26847667
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs561968517
gnomAD v2: 1-94527898-A-AGCTACAACATCAACTCTTTTCCC
gnomAD v3: 1-94062342-A-AGCTACAACATCAACTCTTTTCCC
gnomAD v4: 1-94062342-A-AGCTACAACATCAACTCTTTTCCC
MyVariant Identifiers: chr1:g.94527898_94527899insGCTACAACATCAACTCTTTTCCC (hg19) chr1:g.94062342_94062343insGCTACAACATCAACTCTTTTCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062343_94062365dup , CM000663.2:g.94062343_94062365dup GRCh38
NC_000001.10:g.94527899_94527921dup , CM000663.1:g.94527899_94527921dup GRCh37
NC_000001.9:g.94300487_94300509dup NCBI36
NG_009073.1:g.63785_63807dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+212_1937+234dup MANE Select ENSP00000359245.3:n.1937+212_1937+234dup
ENST00000649773.1:c.1937+212_1937+234dup ENSP00000496882.1:n.1937+212_1937+234dup
ENST00000370225.3:c.1937+212_1937+234dup ENSP00000359245.3:n.1937+212_1937+234dup
ENST00000536513.5:c.-65+809_-65+831dup ENSP00000439707.2:n.-65+809_-65+831dup
NM_000350.2:c.1937+212_1937+234dup NP_000341.2:n.1937+212_1937+234dup
NM_000350.3:c.1937+212_1937+234dup MANE Select NP_000341.2:n.1937+212_1937+234dup
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