Canonical Allele Identifier: CA2646651717

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062530-A-ACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062535_94062536insCCCCCCC , CM000663.2:g.94062535_94062536insCCCCCCC	GRCh38
NC_000001.10:g.94528091_94528092insCCCCCCC , CM000663.1:g.94528091_94528092insCCCCCCC	GRCh37
NC_000001.9:g.94300679_94300680insCCCCCCC	NCBI36
NG_009073.1:g.63619_63620insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+46_1937+47insGGGGGGG MANE Select	ENSP00000359245.3:n.1937+46_1937+47insGGGGGGG
ENST00000649773.1:c.1937+46_1937+47insGGGGGGG	ENSP00000496882.1:n.1937+46_1937+47insGGGGGGG
ENST00000370225.3:c.1937+46_1937+47insGGGGGGG	ENSP00000359245.3:n.1937+46_1937+47insGGGGGGG
ENST00000536513.5:c.-65+643_-65+644insGGGGGGG	ENSP00000439707.2:n.-65+643_-65+644insGGGGGGG
NM_000350.2:c.1937+46_1937+47insGGGGGGG	NP_000341.2:n.1937+46_1937+47insGGGGGGG
NM_000350.3:c.1937+46_1937+47insGGGGGGG MANE Select	NP_000341.2:n.1937+46_1937+47insGGGGGGG