Canonical Allele Identifier: CA1181426379

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056450_94056466delinsTGCCCCTGTACATTTTA , CM000663.2:g.94056450_94056466delinsTGCCCCTGTACATTTTA	GRCh38
NC_000001.10:g.94522006_94522022delinsTGCCCCTGTACATTTTA , CM000663.1:g.94522006_94522022delinsTGCCCCTGTACATTTTA	GRCh37
NC_000001.9:g.94294594_94294610delinsTGCCCCTGTACATTTTA	NCBI36
NG_009073.1:g.69684_69700delinsTAAAATGTACAGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+135_2382+151delinsTAAAATGTACAGGGGCA MANE Select	ENSP00000359245.3:n.2382+135_2382+151delinsTAAAATGTACAGGGGCA
ENST00000649773.1:c.2161-1151_2161-1135delinsTAAAATGTACAGGGGCA	ENSP00000496882.1:n.2161-1151_2161-1135delinsTAAAATGTACAGGGGC...
ENST00000370225.3:c.2382+135_2382+151delinsTAAAATGTACAGGGGCA	ENSP00000359245.3:n.2382+135_2382+151delinsTAAAATGTACAGGGGCA
ENST00000536513.5:c.-65+6708_-65+6724delinsTAAAATGTACAGGGGCA	ENSP00000439707.2:n.-65+6708_-65+6724delinsTAAAATGTACAGGGGCA
NM_000350.2:c.2382+135_2382+151delinsTAAAATGTACAGGGGCA	NP_000341.2:n.2382+135_2382+151delinsTAAAATGTACAGGGGCA
NM_000350.3:c.2382+135_2382+151delinsTAAAATGTACAGGGGCA MANE Select	NP_000341.2:n.2382+135_2382+151delinsTAAAATGTACAGGGGCA