Canonical Allele Identifier: CA1181419851

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041017_94041018delinsAT , CM000663.2:g.94041017_94041018delinsAT	GRCh38
NC_000001.10:g.94506573_94506574delinsAT , CM000663.1:g.94506573_94506574delinsAT	GRCh37
NC_000001.9:g.94279161_94279162delinsAT	NCBI36
NG_009073.1:g.85132_85133delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+191_3522+192delinsAT MANE Select	ENSP00000359245.3:n.3522+191_3522+192delinsAT
ENST00000370225.3:c.3522+191_3522+192delinsAT	ENSP00000359245.3:n.3522+191_3522+192delinsAT
ENST00000536513.5:c.-64-929_-64-928delinsAT	ENSP00000439707.2:n.-64-929_-64-928delinsAT
NM_000350.2:c.3522+191_3522+192delinsAT	NP_000341.2:n.3522+191_3522+192delinsAT
NM_000350.3:c.3522+191_3522+192delinsAT MANE Select	NP_000341.2:n.3522+191_3522+192delinsAT