Canonical Allele Identifier: CA740459519
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1281604215
gnomAD v3: 1-94067469-T-TG
gnomAD v4: 1-94067469-T-TG
MyVariant Identifiers: chr1:g.94533025_94533026insG (hg19) chr1:g.94067469_94067470insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067474dup , CM000663.2:g.94067474dup GRCh38
NC_000001.10:g.94533030dup , CM000663.1:g.94533030dup GRCh37
NC_000001.9:g.94305618dup NCBI36
NG_009073.1:g.58680dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1555-4153dup MANE Select ENSP00000359245.3:n.1555-4153dup
ENST00000649773.1:c.1555-4153dup ENSP00000496882.1:n.1555-4153dup
ENST00000370225.3:c.1555-4153dup ENSP00000359245.3:n.1555-4153dup
NM_000350.2:c.1555-4153dup NP_000341.2:n.1555-4153dup
NM_000350.3:c.1555-4153dup MANE Select NP_000341.2:n.1555-4153dup
Search 100 bp 5'
Search 100 bp 3'