Canonical Allele Identifier: CA2646651695

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062521-C-CCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062521_94062522insCCCCA , CM000663.2:g.94062521_94062522insCCCCA	GRCh38
NC_000001.10:g.94528077_94528078insCCCCA , CM000663.1:g.94528077_94528078insCCCCA	GRCh37
NC_000001.9:g.94300665_94300666insCCCCA	NCBI36
NG_009073.1:g.63628_63629insTGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1937+55_1937+56insTGGGG MANE Select	ENSP00000359245.3:n.1937+55_1937+56insTGGGG
ENST00000649773.1:c.1937+55_1937+56insTGGGG	ENSP00000496882.1:n.1937+55_1937+56insTGGGG
ENST00000370225.3:c.1937+55_1937+56insTGGGG	ENSP00000359245.3:n.1937+55_1937+56insTGGGG
ENST00000536513.5:c.-65+652_-65+653insTGGGG	ENSP00000439707.2:n.-65+652_-65+653insTGGGG
NM_000350.2:c.1937+55_1937+56insTGGGG	NP_000341.2:n.1937+55_1937+56insTGGGG
NM_000350.3:c.1937+55_1937+56insTGGGG MANE Select	NP_000341.2:n.1937+55_1937+56insTGGGG