Canonical Allele Identifier: CA2744618372

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047192_94047193insAGAA , CM000663.2:g.94047192_94047193insAGAA	GRCh38
NC_000001.10:g.94512748_94512749insAGAA , CM000663.1:g.94512748_94512749insAGAA	GRCh37
NC_000001.9:g.94285336_94285337insAGAA	NCBI36
NG_009073.1:g.78957_78958insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-100_2744-99insTTCT MANE Select	ENSP00000359245.3:n.2744-100_2744-99insTTCT
ENST00000649773.1:c.2522-100_2522-99insTTCT	ENSP00000496882.1:n.2522-100_2522-99insTTCT
ENST00000370225.3:c.2744-100_2744-99insTTCT	ENSP00000359245.3:n.2744-100_2744-99insTTCT
ENST00000536513.5:c.-64-7104_-64-7103insTTCT	ENSP00000439707.2:n.-64-7104_-64-7103insTTCT
NM_000350.2:c.2744-100_2744-99insTTCT	NP_000341.2:n.2744-100_2744-99insTTCT
NM_000350.3:c.2744-100_2744-99insTTCT MANE Select	NP_000341.2:n.2744-100_2744-99insTTCT