Canonical Allele Identifier: CA418819244

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94522366_94522367insGATT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056811_94056814dup , CM000663.2:g.94056811_94056814dup	GRCh38
NC_000001.10:g.94522367_94522370dup , CM000663.1:g.94522367_94522370dup	GRCh37
NC_000001.9:g.94294955_94294958dup	NCBI36
NG_009073.1:g.69336_69339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2169_2172dup MANE Select	ENSP00000359245.3:p.Leu725AsnfsTer?
ENST00000649773.1:c.2161-1499_2161-1496dup	ENSP00000496882.1:n.2161-1499_2161-1496dup
ENST00000370225.3:c.2169_2172dup	ENSP00000359245.3:p.Leu725AsnfsTer?
ENST00000536513.5:c.-65+6360_-65+6363dup	ENSP00000439707.2:n.-65+6360_-65+6363dup
NM_000350.2:c.2169_2172dup	NP_000341.2:p.Leu725AsnfsTer?
NM_000350.3:c.2169_2172dup MANE Select	NP_000341.2:p.Leu725AsnfsTer?