Canonical Allele Identifier: CA2744619341

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062873_94062874insA , CM000663.2:g.94062873_94062874insA	GRCh38
NC_000001.10:g.94528429_94528430insA , CM000663.1:g.94528429_94528430insA	GRCh37
NC_000001.9:g.94301017_94301018insA	NCBI36
NG_009073.1:g.63276_63277insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-121_1761-120insT MANE Select	ENSP00000359245.3:n.1761-121_1761-120insT
ENST00000649773.1:c.1761-121_1761-120insT	ENSP00000496882.1:n.1761-121_1761-120insT
ENST00000370225.3:c.1761-121_1761-120insT	ENSP00000359245.3:n.1761-121_1761-120insT
ENST00000536513.5:c.-65+300_-65+301insT	ENSP00000439707.2:n.-65+300_-65+301insT
NM_000350.2:c.1761-121_1761-120insT	NP_000341.2:n.1761-121_1761-120insT
NM_000350.3:c.1761-121_1761-120insT MANE Select	NP_000341.2:n.1761-121_1761-120insT