Canonical Allele Identifier: CA957741
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs760519654
ExAC: 1:94497427 G / GTT
gnomAD v2: 1-94497427-G-GTT
gnomAD v4: 1-94031871-G-GTT
MyVariant Identifiers: chr1:g.94497427_94497428insTT (hg19) chr1:g.94031871_94031872insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031872_94031873dup , CM000663.2:g.94031872_94031873dup GRCh38
NC_000001.10:g.94497428_94497429dup , CM000663.1:g.94497428_94497429dup GRCh37
NC_000001.9:g.94270016_94270017dup NCBI36
NG_009073.1:g.94277_94278dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4033_4034dup MANE Select ENSP00000359245.3:p.Asn1345LysfsTer?
ENST00000370225.3:c.4033_4034dup ENSP00000359245.3:p.Asn1345LysfsTer?
ENST00000536513.5:c.409_410dup ENSP00000439707.2:p.Asn137LysfsTer?
NM_000350.2:c.4033_4034dup NP_000341.2:p.Asn1345LysfsTer?
NM_000350.3:c.4033_4034dup MANE Select NP_000341.2:p.Asn1345LysfsTer?
Search 100 bp 5'
Search 100 bp 3'