Canonical Allele Identifier: CA2744618860

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056842_94056843insAGG , CM000663.2:g.94056842_94056843insAGG	GRCh38
NC_000001.10:g.94522398_94522399insAGG , CM000663.1:g.94522398_94522399insAGG	GRCh37
NC_000001.9:g.94294986_94294987insAGG	NCBI36
NG_009073.1:g.69307_69308insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2161-21_2161-20insCCT MANE Select	ENSP00000359245.3:n.2161-21_2161-20insCCT
ENST00000649773.1:c.2161-1528_2161-1527insCCT	ENSP00000496882.1:n.2161-1528_2161-1527insCCT
ENST00000370225.3:c.2161-21_2161-20insCCT	ENSP00000359245.3:n.2161-21_2161-20insCCT
ENST00000536513.5:c.-65+6331_-65+6332insCCT	ENSP00000439707.2:n.-65+6331_-65+6332insCCT
NM_000350.2:c.2161-21_2161-20insCCT	NP_000341.2:n.2161-21_2161-20insCCT
NM_000350.3:c.2161-21_2161-20insCCT MANE Select	NP_000341.2:n.2161-21_2161-20insCCT