Canonical Allele Identifier: CA2586966909

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94060633-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060638dup , CM000663.2:g.94060638dup	GRCh38
NC_000001.10:g.94526194dup , CM000663.1:g.94526194dup	GRCh37
NC_000001.9:g.94298782dup	NCBI36
NG_009073.1:g.65516dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2063dup MANE Select	ENSP00000359245.3:p.Asn688LysfsTer?
ENST00000649773.1:c.2063dup	ENSP00000496882.1:p.Asn688LysfsTer?
ENST00000370225.3:c.2063dup	ENSP00000359245.3:p.Asn688LysfsTer?
ENST00000472033.1:n.183dup
ENST00000536513.5:c.-65+2540dup	ENSP00000439707.2:n.-65+2540dup
NM_000350.2:c.2063dup	NP_000341.2:p.Asn688LysfsTer?
NM_000350.3:c.2063dup MANE Select	NP_000341.2:p.Asn688LysfsTer?