Canonical Allele Identifier: CA2744617896

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043631_94043634del , CM000663.2:g.94043631_94043634del	GRCh38
NC_000001.10:g.94509187_94509190del , CM000663.1:g.94509187_94509190del	GRCh37
NC_000001.9:g.94281775_94281778del	NCBI36
NG_009073.1:g.82517_82520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-158_3051-155del MANE Select	ENSP00000359245.3:n.3051-158_3051-155del
ENST00000370225.3:c.3051-158_3051-155del	ENSP00000359245.3:n.3051-158_3051-155del
ENST00000536513.5:c.-64-3544_-64-3541del	ENSP00000439707.2:n.-64-3544_-64-3541del
NM_000350.2:c.3051-158_3051-155del	NP_000341.2:n.3051-158_3051-155del
NM_000350.3:c.3051-158_3051-155del MANE Select	NP_000341.2:n.3051-158_3051-155del