Canonical Allele Identifier: CA2646651709

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062526-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062527_94062528del , CM000663.2:g.94062527_94062528del	GRCh38
NC_000001.10:g.94528083_94528084del , CM000663.1:g.94528083_94528084del	GRCh37
NC_000001.9:g.94300671_94300672del	NCBI36
NG_009073.1:g.63622_63623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1937+49_1937+50del MANE Select	ENSP00000359245.3:n.1937+49_1937+50del
ENST00000649773.1:c.1937+49_1937+50del	ENSP00000496882.1:n.1937+49_1937+50del
ENST00000370225.3:c.1937+49_1937+50del	ENSP00000359245.3:n.1937+49_1937+50del
ENST00000536513.5:c.-65+646_-65+647del	ENSP00000439707.2:n.-65+646_-65+647del
NM_000350.2:c.1937+49_1937+50del	NP_000341.2:n.1937+49_1937+50del
NM_000350.3:c.1937+49_1937+50del MANE Select	NP_000341.2:n.1937+49_1937+50del