Canonical Allele Identifier: CA2646646276

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94011130-A-AGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011131_94011132insCTG , CM000663.2:g.94011131_94011132insCTG	GRCh38
NC_000001.10:g.94476687_94476688insCTG , CM000663.1:g.94476687_94476688insCTG	GRCh37
NC_000001.9:g.94249275_94249276insCTG	NCBI36
NG_009073.1:g.115019_115020insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5584+131_5584+132insAGC MANE Select	ENSP00000359245.3:n.5584+131_5584+132insAGC
ENST00000370225.3:c.5584+131_5584+132insAGC	ENSP00000359245.3:n.5584+131_5584+132insAGC
ENST00000536513.5:c.1960+131_1960+132insAGC	ENSP00000439707.2:n.1960+131_1960+132insAGC
NM_000350.2:c.5584+131_5584+132insAGC	NP_000341.2:n.5584+131_5584+132insAGC
NM_000350.3:c.5584+131_5584+132insAGC MANE Select	NP_000341.2:n.5584+131_5584+132insAGC