Canonical Allele Identifier: CA2744617846

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043532_94043533insACAC , CM000663.2:g.94043532_94043533insACAC	GRCh38
NC_000001.10:g.94509088_94509089insACAC , CM000663.1:g.94509088_94509089insACAC	GRCh37
NC_000001.9:g.94281676_94281677insACAC	NCBI36
NG_009073.1:g.82617_82618insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-58_3051-57insGTGT MANE Select	ENSP00000359245.3:n.3051-58_3051-57insGTGT
ENST00000370225.3:c.3051-58_3051-57insGTGT	ENSP00000359245.3:n.3051-58_3051-57insGTGT
ENST00000536513.5:c.-64-3444_-64-3443insGTGT	ENSP00000439707.2:n.-64-3444_-64-3443insGTGT
NM_000350.2:c.3051-58_3051-57insGTGT	NP_000341.2:n.3051-58_3051-57insGTGT
NM_000350.3:c.3051-58_3051-57insGTGT MANE Select	NP_000341.2:n.3051-58_3051-57insGTGT