Canonical Allele Identifier: CA2744616643

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030713_94030714insGAC , CM000663.2:g.94030713_94030714insGAC	GRCh38
NC_000001.10:g.94496269_94496270insGAC , CM000663.1:g.94496269_94496270insGAC	GRCh37
NC_000001.9:g.94268857_94268858insGAC	NCBI36
NG_009073.1:g.95436_95437insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-188_4254-187insGTC MANE Select	ENSP00000359245.3:n.4254-188_4254-187insGTC
ENST00000370225.3:c.4254-188_4254-187insGTC	ENSP00000359245.3:n.4254-188_4254-187insGTC
ENST00000536513.5:c.630-188_630-187insGTC	ENSP00000439707.2:n.630-188_630-187insGTC
NM_000350.2:c.4254-188_4254-187insGTC	NP_000341.2:n.4254-188_4254-187insGTC
NM_000350.3:c.4254-188_4254-187insGTC MANE Select	NP_000341.2:n.4254-188_4254-187insGTC