Canonical Allele Identifier: CA2744621272

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111697_94111699del , CM000663.2:g.94111697_94111699del	GRCh38
NC_000001.10:g.94577253_94577255del , CM000663.1:g.94577253_94577255del	GRCh37
NC_000001.9:g.94349841_94349843del	NCBI36
NG_009073.1:g.14451_14453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-120_161-118del MANE Select	ENSP00000359245.3:n.161-120_161-118del
ENST00000649773.1:c.161-120_161-118del	ENSP00000496882.1:n.161-120_161-118del
ENST00000370225.3:c.161-120_161-118del	ENSP00000359245.3:n.161-120_161-118del
NM_000350.2:c.161-120_161-118del	NP_000341.2:n.161-120_161-118del
NM_000350.3:c.161-120_161-118del MANE Select	NP_000341.2:n.161-120_161-118del