Canonical Allele Identifier: CA1181403269

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008209_94008211delinsTCA , CM000663.2:g.94008209_94008211delinsTCA	GRCh38
NC_000001.10:g.94473765_94473767delinsTCA , CM000663.1:g.94473765_94473767delinsTCA	GRCh37
NC_000001.9:g.94246353_94246355delinsTCA	NCBI36
NG_009073.1:g.117939_117941delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5898+24_5898+26delinsTGA MANE Select	ENSP00000359245.3:n.5898+24_5898+26delinsTGA
ENST00000370225.3:c.5898+24_5898+26delinsTGA	ENSP00000359245.3:n.5898+24_5898+26delinsTGA
ENST00000465352.1:n.314+24_314+26delinsTGA
ENST00000536513.5:c.2274+24_2274+26delinsTGA	ENSP00000439707.2:n.2274+24_2274+26delinsTGA
NM_000350.2:c.5898+24_5898+26delinsTGA	NP_000341.2:n.5898+24_5898+26delinsTGA
NM_000350.3:c.5898+24_5898+26delinsTGA MANE Select	NP_000341.2:n.5898+24_5898+26delinsTGA