Canonical Allele Identifier: CA1181420864

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043311_94043313delinsCCT , CM000663.2:g.94043311_94043313delinsCCT	GRCh38
NC_000001.10:g.94508867_94508869delinsCCT , CM000663.1:g.94508867_94508869delinsCCT	GRCh37
NC_000001.9:g.94281455_94281457delinsCCT	NCBI36
NG_009073.1:g.82837_82839delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.3190+23_3190+25delinsAGG MANE Select	ENSP00000359245.3:n.3190+23_3190+25delinsAGG
ENST00000370225.3:c.3190+23_3190+25delinsAGG	ENSP00000359245.3:n.3190+23_3190+25delinsAGG
ENST00000536513.5:c.-64-3224_-64-3222delinsAGG	ENSP00000439707.2:n.-64-3224_-64-3222delinsAGG
NM_000350.2:c.3190+23_3190+25delinsAGG	NP_000341.2:n.3190+23_3190+25delinsAGG
NM_000350.3:c.3190+23_3190+25delinsAGG MANE Select	NP_000341.2:n.3190+23_3190+25delinsAGG