Canonical Allele Identifier: CA26844385
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs560917752
gnomAD v2: 1-94522488-ACGCACACTC-A
gnomAD v3: 1-94056932-ACGCACACTC-A
gnomAD v4: 1-94056932-ACGCACACTC-A
MyVariant Identifiers: chr1:g.94522489_94522497del (hg19) chr1:g.94056933_94056941del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056934_94056942del , CM000663.2:g.94056934_94056942del GRCh38
NC_000001.10:g.94522490_94522498del , CM000663.1:g.94522490_94522498del GRCh37
NC_000001.9:g.94295078_94295086del NCBI36
NG_009073.1:g.69209_69217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2161-119_2161-111del MANE Select ENSP00000359245.3:n.2161-119_2161-111del
ENST00000649773.1:c.2161-1626_2161-1618del ENSP00000496882.1:n.2161-1626_2161-1618del
ENST00000370225.3:c.2161-119_2161-111del ENSP00000359245.3:n.2161-119_2161-111del
ENST00000536513.5:c.-65+6233_-65+6241del ENSP00000439707.2:n.-65+6233_-65+6241del
NM_000350.2:c.2161-119_2161-111del NP_000341.2:n.2161-119_2161-111del
NM_000350.3:c.2161-119_2161-111del MANE Select NP_000341.2:n.2161-119_2161-111del
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