Canonical Allele Identifier: CA1181419889

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041069_94041072delinsATCT , CM000663.2:g.94041069_94041072delinsATCT	GRCh38
NC_000001.10:g.94506625_94506628delinsATCT , CM000663.1:g.94506625_94506628delinsATCT	GRCh37
NC_000001.9:g.94279213_94279216delinsATCT	NCBI36
NG_009073.1:g.85078_85081delinsAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+137_3522+140delinsAGAT MANE Select	ENSP00000359245.3:n.3522+137_3522+140delinsAGAT
ENST00000370225.3:c.3522+137_3522+140delinsAGAT	ENSP00000359245.3:n.3522+137_3522+140delinsAGAT
ENST00000536513.5:c.-64-983_-64-980delinsAGAT	ENSP00000439707.2:n.-64-983_-64-980delinsAGAT
NM_000350.2:c.3522+137_3522+140delinsAGAT	NP_000341.2:n.3522+137_3522+140delinsAGAT
NM_000350.3:c.3522+137_3522+140delinsAGAT MANE Select	NP_000341.2:n.3522+137_3522+140delinsAGAT