Canonical Allele Identifier: CA1181428771

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062345_94062348delinsTACA , CM000663.2:g.94062345_94062348delinsTACA	GRCh38
NC_000001.10:g.94527901_94527904delinsTACA , CM000663.1:g.94527901_94527904delinsTACA	GRCh37
NC_000001.9:g.94300489_94300492delinsTACA	NCBI36
NG_009073.1:g.63802_63805delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+229_1937+232delinsTGTA MANE Select	ENSP00000359245.3:n.1937+229_1937+232delinsTGTA
ENST00000649773.1:c.1937+229_1937+232delinsTGTA	ENSP00000496882.1:n.1937+229_1937+232delinsTGTA
ENST00000370225.3:c.1937+229_1937+232delinsTGTA	ENSP00000359245.3:n.1937+229_1937+232delinsTGTA
ENST00000536513.5:c.-65+826_-65+829delinsTGTA	ENSP00000439707.2:n.-65+826_-65+829delinsTGTA
NM_000350.2:c.1937+229_1937+232delinsTGTA	NP_000341.2:n.1937+229_1937+232delinsTGTA
NM_000350.3:c.1937+229_1937+232delinsTGTA MANE Select	NP_000341.2:n.1937+229_1937+232delinsTGTA