Canonical Allele Identifier: CA1140012051
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041514_94041524delinsAAAAAAAAAAA , CM000663.2:g.94041514_94041524delinsAAAAAAAAAAA GRCh38
NC_000001.10:g.94507070_94507080delinsAAAAAAAAAAA , CM000663.1:g.94507070_94507080delinsAAAAAAAAAAA GRCh37
NC_000001.9:g.94279658_94279668delinsAAAAAAAAAAA NCBI36
NG_009073.1:g.84626_84636delinsTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-122_3329-112delinsTTTTTTTTTTT MANE Select ENSP00000359245.3:n.3329-122_3329-112delinsTTTTTTTTTTT
ENST00000370225.3:c.3329-122_3329-112delinsTTTTTTTTTTT ENSP00000359245.3:n.3329-122_3329-112delinsTTTTTTTTTTT
ENST00000536513.5:c.-64-1435_-64-1425delinsTTTTTTTTTTT ENSP00000439707.2:n.-64-1435_-64-1425delinsTTTTTTTTTTT
NM_000350.2:c.3329-122_3329-112delinsTTTTTTTTTTT NP_000341.2:n.3329-122_3329-112delinsTTTTTTTTTTT
NM_000350.3:c.3329-122_3329-112delinsTTTTTTTTTTT MANE Select NP_000341.2:n.3329-122_3329-112delinsTTTTTTTTTTT
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