Canonical Allele Identifier: CA2646648976

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94041512-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041513_94041514del , CM000663.2:g.94041513_94041514del	GRCh38
NC_000001.10:g.94507069_94507070del , CM000663.1:g.94507069_94507070del	GRCh37
NC_000001.9:g.94279657_94279658del	NCBI36
NG_009073.1:g.84636_84637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-112_3329-111del MANE Select	ENSP00000359245.3:n.3329-112_3329-111del
ENST00000370225.3:c.3329-112_3329-111del	ENSP00000359245.3:n.3329-112_3329-111del
ENST00000536513.5:c.-64-1425_-64-1424del	ENSP00000439707.2:n.-64-1425_-64-1424del
NM_000350.2:c.3329-112_3329-111del	NP_000341.2:n.3329-112_3329-111del
NM_000350.3:c.3329-112_3329-111del MANE Select	NP_000341.2:n.3329-112_3329-111del