Canonical Allele Identifier: CA2744617856

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043555_94043556insGTT , CM000663.2:g.94043555_94043556insGTT	GRCh38
NC_000001.10:g.94509111_94509112insGTT , CM000663.1:g.94509111_94509112insGTT	GRCh37
NC_000001.9:g.94281699_94281700insGTT	NCBI36
NG_009073.1:g.82594_82595insAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-81_3051-80insAAC MANE Select	ENSP00000359245.3:n.3051-81_3051-80insAAC
ENST00000370225.3:c.3051-81_3051-80insAAC	ENSP00000359245.3:n.3051-81_3051-80insAAC
ENST00000536513.5:c.-64-3467_-64-3466insAAC	ENSP00000439707.2:n.-64-3467_-64-3466insAAC
NM_000350.2:c.3051-81_3051-80insAAC	NP_000341.2:n.3051-81_3051-80insAAC
NM_000350.3:c.3051-81_3051-80insAAC MANE Select	NP_000341.2:n.3051-81_3051-80insAAC