Canonical Allele Identifier: CA2646647374

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94021500-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021500_94021501insAA , CM000663.2:g.94021500_94021501insAA	GRCh38
NC_000001.10:g.94487056_94487057insAA , CM000663.1:g.94487056_94487057insAA	GRCh37
NC_000001.9:g.94259644_94259645insAA	NCBI36
NG_009073.1:g.104649_104650insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-92_4849-91insTT MANE Select	ENSP00000359245.3:n.4849-92_4849-91insTT
ENST00000370225.3:c.4849-92_4849-91insTT	ENSP00000359245.3:n.4849-92_4849-91insTT
ENST00000460514.1:n.343-92_343-91insTT
ENST00000536513.5:c.1225-92_1225-91insTT	ENSP00000439707.2:n.1225-92_1225-91insTT
NM_000350.2:c.4849-92_4849-91insTT	NP_000341.2:n.4849-92_4849-91insTT
NM_000350.3:c.4849-92_4849-91insTT MANE Select	NP_000341.2:n.4849-92_4849-91insTT