Canonical Allele Identifier: CA958906
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs770803138
ExAC: 1:94577144 CAG / C
gnomAD v2: 1-94577144-CAG-C
gnomAD v4: 1-94111588-CAG-C
MyVariant Identifiers: chr1:g.94577145_94577146del (hg19) chr1:g.94111589_94111590del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111590_94111591del , CM000663.2:g.94111590_94111591del GRCh38
NC_000001.10:g.94577146_94577147del , CM000663.1:g.94577146_94577147del GRCh37
NC_000001.9:g.94349734_94349735del NCBI36
NG_009073.1:g.14560_14561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-11_161-10del MANE Select ENSP00000359245.3:n.161-11_161-10del
ENST00000649773.1:c.161-11_161-10del ENSP00000496882.1:n.161-11_161-10del
ENST00000370225.3:c.161-11_161-10del ENSP00000359245.3:n.161-11_161-10del
NM_000350.2:c.161-11_161-10del NP_000341.2:n.161-11_161-10del
NM_000350.3:c.161-11_161-10del MANE Select NP_000341.2:n.161-11_161-10del
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