Canonical Allele Identifier: CA2601992062
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v3: 1-94041513-T-TAAAAAAA
gnomAD v4: 1-94041513-T-TAAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041518_94041524dup , CM000663.2:g.94041518_94041524dup GRCh38
NC_000001.10:g.94507074_94507080dup , CM000663.1:g.94507074_94507080dup GRCh37
NC_000001.9:g.94279662_94279668dup NCBI36
NG_009073.1:g.84630_84636dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-118_3329-112dup MANE Select ENSP00000359245.3:n.3329-118_3329-112dup
ENST00000370225.3:c.3329-118_3329-112dup ENSP00000359245.3:n.3329-118_3329-112dup
ENST00000536513.5:c.-64-1431_-64-1425dup ENSP00000439707.2:n.-64-1431_-64-1425dup
NM_000350.2:c.3329-118_3329-112dup NP_000341.2:n.3329-118_3329-112dup
NM_000350.3:c.3329-118_3329-112dup MANE Select NP_000341.2:n.3329-118_3329-112dup
Search 100 bp 5'
Search 100 bp 3'