Canonical Allele Identifier: CA740500737
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1266199950
gnomAD v3: 1-93997786-T-TA
gnomAD v4: 1-93997786-T-TA
MyVariant Identifiers: chr1:g.94463342_94463343insA (hg19) chr1:g.93997786_93997787insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997787dup , CM000663.2:g.93997787dup GRCh38
NC_000001.10:g.94463343dup , CM000663.1:g.94463343dup GRCh37
NC_000001.9:g.94235931dup NCBI36
NG_009073.1:g.128363dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+74dup MANE Select ENSP00000359245.3:n.6729+74dup
ENST00000370225.3:c.6729+74dup ENSP00000359245.3:n.6729+74dup
ENST00000536513.5:c.3105+74dup ENSP00000439707.2:n.3105+74dup
NM_000350.2:c.6729+74dup NP_000341.2:n.6729+74dup
NM_000350.3:c.6729+74dup MANE Select NP_000341.2:n.6729+74dup
Search 100 bp 5'
Search 100 bp 3'