Canonical Allele Identifier: CA1181447918

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111844_94111845delinsAG , CM000663.2:g.94111844_94111845delinsAG	GRCh38
NC_000001.10:g.94577400_94577401delinsAG , CM000663.1:g.94577400_94577401delinsAG	GRCh37
NC_000001.9:g.94349988_94349989delinsAG	NCBI36
NG_009073.1:g.14305_14306delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-266_161-265delinsCT MANE Select	ENSP00000359245.3:n.161-266_161-265delinsCT
ENST00000649773.1:c.161-266_161-265delinsCT	ENSP00000496882.1:n.161-266_161-265delinsCT
ENST00000370225.3:c.161-266_161-265delinsCT	ENSP00000359245.3:n.161-266_161-265delinsCT
NM_000350.2:c.161-266_161-265delinsCT	NP_000341.2:n.161-266_161-265delinsCT
NM_000350.3:c.161-266_161-265delinsCT MANE Select	NP_000341.2:n.161-266_161-265delinsCT