Canonical Allele Identifier: CA2744617885

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043596_94043597insACA , CM000663.2:g.94043596_94043597insACA	GRCh38
NC_000001.10:g.94509152_94509153insACA , CM000663.1:g.94509152_94509153insACA	GRCh37
NC_000001.9:g.94281740_94281741insACA	NCBI36
NG_009073.1:g.82553_82554insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-122_3051-121insTGT MANE Select	ENSP00000359245.3:n.3051-122_3051-121insTGT
ENST00000370225.3:c.3051-122_3051-121insTGT	ENSP00000359245.3:n.3051-122_3051-121insTGT
ENST00000536513.5:c.-64-3508_-64-3507insTGT	ENSP00000439707.2:n.-64-3508_-64-3507insTGT
NM_000350.2:c.3051-122_3051-121insTGT	NP_000341.2:n.3051-122_3051-121insTGT
NM_000350.3:c.3051-122_3051-121insTGT MANE Select	NP_000341.2:n.3051-122_3051-121insTGT