Canonical Allele Identifier: CA958063
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs746863175
ExAC: 1:94509080 CCA / C
gnomAD v2: 1-94509080-CCA-C
gnomAD v4: 1-94043524-CCA-C
MyVariant Identifiers: chr1:g.94509081_94509082del (hg19) chr1:g.94043525_94043526del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043525_94043526del , CM000663.2:g.94043525_94043526del GRCh38
NC_000001.10:g.94509081_94509082del , CM000663.1:g.94509081_94509082del GRCh37
NC_000001.9:g.94281669_94281670del NCBI36
NG_009073.1:g.82624_82625del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3051-51_3051-50del MANE Select ENSP00000359245.3:n.3051-51_3051-50del
ENST00000370225.3:c.3051-51_3051-50del ENSP00000359245.3:n.3051-51_3051-50del
ENST00000536513.5:c.-64-3437_-64-3436del ENSP00000439707.2:n.-64-3437_-64-3436del
NM_000350.2:c.3051-51_3051-50del NP_000341.2:n.3051-51_3051-50del
NM_000350.3:c.3051-51_3051-50del MANE Select NP_000341.2:n.3051-51_3051-50del
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