Canonical Allele Identifier: CA524697560
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1388812249
gnomAD v2: 1-94526441-T-TC
gnomAD v3: 1-94060885-T-TC
gnomAD v4: 1-94060885-T-TC
MyVariant Identifiers: chr1:g.94526441_94526442insC (hg19) chr1:g.94060885_94060886insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060889dup , CM000663.2:g.94060889dup GRCh38
NC_000001.10:g.94526445dup , CM000663.1:g.94526445dup GRCh37
NC_000001.9:g.94299033dup NCBI36
NG_009073.1:g.65264dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-127dup MANE Select ENSP00000359245.3:n.1938-127dup
ENST00000649773.1:c.1938-127dup ENSP00000496882.1:n.1938-127dup
ENST00000370225.3:c.1938-127dup ENSP00000359245.3:n.1938-127dup
ENST00000472033.1:n.58-127dup
ENST00000536513.5:c.-65+2288dup ENSP00000439707.2:n.-65+2288dup
NM_000350.2:c.1938-127dup NP_000341.2:n.1938-127dup
NM_000350.3:c.1938-127dup MANE Select NP_000341.2:n.1938-127dup
Search 100 bp 5'
Search 100 bp 3'