Canonical Allele Identifier: CA2744621205

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111653_94111654insACA , CM000663.2:g.94111653_94111654insACA	GRCh38
NC_000001.10:g.94577209_94577210insACA , CM000663.1:g.94577209_94577210insACA	GRCh37
NC_000001.9:g.94349797_94349798insACA	NCBI36
NG_009073.1:g.14496_14497insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-75_161-74insTGT MANE Select	ENSP00000359245.3:n.161-75_161-74insTGT
ENST00000649773.1:c.161-75_161-74insTGT	ENSP00000496882.1:n.161-75_161-74insTGT
ENST00000370225.3:c.161-75_161-74insTGT	ENSP00000359245.3:n.161-75_161-74insTGT
NM_000350.2:c.161-75_161-74insTGT	NP_000341.2:n.161-75_161-74insTGT
NM_000350.3:c.161-75_161-74insTGT MANE Select	NP_000341.2:n.161-75_161-74insTGT