Canonical Allele Identifier: CA524382095
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1553186164
gnomAD v2: 1-94463695-CCT-C
gnomAD v4: 1-93998139-CCT-C
MyVariant Identifiers: chr1:g.94463696_94463697del (hg19) chr1:g.93998140_93998141del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998142_93998143del , CM000663.2:g.93998142_93998143del GRCh38
NC_000001.10:g.94463698_94463699del , CM000663.1:g.94463698_94463699del GRCh37
NC_000001.9:g.94236286_94236287del NCBI36
NG_009073.1:g.128009_128010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6480-31_6480-30del MANE Select ENSP00000359245.3:n.6480-31_6480-30del
ENST00000370225.3:c.6480-31_6480-30del ENSP00000359245.3:n.6480-31_6480-30del
ENST00000536513.5:c.2856-31_2856-30del ENSP00000439707.2:n.2856-31_2856-30del
NM_000350.2:c.6480-31_6480-30del NP_000341.2:n.6480-31_6480-30del
NM_000350.3:c.6480-31_6480-30del MANE Select NP_000341.2:n.6480-31_6480-30del
Search 100 bp 5'
Search 100 bp 3'