Canonical Allele Identifier: CA1181426375

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056441_94056442delinsTC , CM000663.2:g.94056441_94056442delinsTC	GRCh38
NC_000001.10:g.94521997_94521998delinsTC , CM000663.1:g.94521997_94521998delinsTC	GRCh37
NC_000001.9:g.94294585_94294586delinsTC	NCBI36
NG_009073.1:g.69708_69709delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+159_2382+160delinsGA MANE Select	ENSP00000359245.3:n.2382+159_2382+160delinsGA
ENST00000649773.1:c.2161-1127_2161-1126delinsGA	ENSP00000496882.1:n.2161-1127_2161-1126delinsGA
ENST00000370225.3:c.2382+159_2382+160delinsGA	ENSP00000359245.3:n.2382+159_2382+160delinsGA
ENST00000536513.5:c.-65+6732_-65+6733delinsGA	ENSP00000439707.2:n.-65+6732_-65+6733delinsGA
NM_000350.2:c.2382+159_2382+160delinsGA	NP_000341.2:n.2382+159_2382+160delinsGA
NM_000350.3:c.2382+159_2382+160delinsGA MANE Select	NP_000341.2:n.2382+159_2382+160delinsGA