Canonical Allele Identifier: CA2744620001

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079251_94079252insGA , CM000663.2:g.94079251_94079252insGA	GRCh38
NC_000001.10:g.94544807_94544808insGA , CM000663.1:g.94544807_94544808insGA	GRCh37
NC_000001.9:g.94317395_94317396insGA	NCBI36
NG_009073.1:g.46899_46900insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1239+71_1239+72insCT MANE Select	ENSP00000359245.3:n.1239+71_1239+72insCT
ENST00000649773.1:c.1239+71_1239+72insCT	ENSP00000496882.1:n.1239+71_1239+72insCT
ENST00000370225.3:c.1239+71_1239+72insCT	ENSP00000359245.3:n.1239+71_1239+72insCT
NM_000350.2:c.1239+71_1239+72insCT	NP_000341.2:n.1239+71_1239+72insCT
NM_000350.3:c.1239+71_1239+72insCT MANE Select	NP_000341.2:n.1239+71_1239+72insCT