Canonical Allele Identifier: CA2744621279

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111712_94111713insA , CM000663.2:g.94111712_94111713insA	GRCh38
NC_000001.10:g.94577268_94577269insA , CM000663.1:g.94577268_94577269insA	GRCh37
NC_000001.9:g.94349856_94349857insA	NCBI36
NG_009073.1:g.14437_14438insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-134_161-133insT MANE Select	ENSP00000359245.3:n.161-134_161-133insT
ENST00000649773.1:c.161-134_161-133insT	ENSP00000496882.1:n.161-134_161-133insT
ENST00000370225.3:c.161-134_161-133insT	ENSP00000359245.3:n.161-134_161-133insT
NM_000350.2:c.161-134_161-133insT	NP_000341.2:n.161-134_161-133insT
NM_000350.3:c.161-134_161-133insT MANE Select	NP_000341.2:n.161-134_161-133insT