Canonical Allele Identifier: CA1181408413

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021538_94021541delinsCAGG , CM000663.2:g.94021538_94021541delinsCAGG	GRCh38
NC_000001.10:g.94487094_94487097delinsCAGG , CM000663.1:g.94487094_94487097delinsCAGG	GRCh37
NC_000001.9:g.94259682_94259685delinsCAGG	NCBI36
NG_009073.1:g.104609_104612delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+99_4848+102delinsCCTG MANE Select	ENSP00000359245.3:n.4848+99_4848+102delinsCCTG
ENST00000370225.3:c.4848+99_4848+102delinsCCTG	ENSP00000359245.3:n.4848+99_4848+102delinsCCTG
ENST00000460514.1:n.342+99_342+102delinsCCTG
ENST00000536513.5:c.1224+99_1224+102delinsCCTG	ENSP00000439707.2:n.1224+99_1224+102delinsCCTG
NM_000350.2:c.4848+99_4848+102delinsCCTG	NP_000341.2:n.4848+99_4848+102delinsCCTG
NM_000350.3:c.4848+99_4848+102delinsCCTG MANE Select	NP_000341.2:n.4848+99_4848+102delinsCCTG