Canonical Allele Identifier: CA2646651625

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062458-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062460del , CM000663.2:g.94062460del	GRCh38
NC_000001.10:g.94528016del , CM000663.1:g.94528016del	GRCh37
NC_000001.9:g.94300604del	NCBI36
NG_009073.1:g.63691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+118del MANE Select	ENSP00000359245.3:n.1937+118del
ENST00000649773.1:c.1937+118del	ENSP00000496882.1:n.1937+118del
ENST00000370225.3:c.1937+118del	ENSP00000359245.3:n.1937+118del
ENST00000536513.5:c.-65+715del	ENSP00000439707.2:n.-65+715del
NM_000350.2:c.1937+118del	NP_000341.2:n.1937+118del
NM_000350.3:c.1937+118del MANE Select	NP_000341.2:n.1937+118del