Canonical Allele Identifier: CA1146892649

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030694_94030696delinsCTC , CM000663.2:g.94030694_94030696delinsCTC	GRCh38
NC_000001.10:g.94496250_94496252delinsCTC , CM000663.1:g.94496250_94496252delinsCTC	GRCh37
NC_000001.9:g.94268838_94268840delinsCTC	NCBI36
NG_009073.1:g.95454_95456delinsGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-170_4254-168delinsGAG MANE Select	ENSP00000359245.3:n.4254-170_4254-168delinsGAG
ENST00000370225.3:c.4254-170_4254-168delinsGAG	ENSP00000359245.3:n.4254-170_4254-168delinsGAG
ENST00000536513.5:c.630-170_630-168delinsGAG	ENSP00000439707.2:n.630-170_630-168delinsGAG
NM_000350.2:c.4254-170_4254-168delinsGAG	NP_000341.2:n.4254-170_4254-168delinsGAG
NM_000350.3:c.4254-170_4254-168delinsGAG MANE Select	NP_000341.2:n.4254-170_4254-168delinsGAG