Canonical Allele Identifier: CA2744617857

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043557_94043562del , CM000663.2:g.94043557_94043562del	GRCh38
NC_000001.10:g.94509113_94509118del , CM000663.1:g.94509113_94509118del	GRCh37
NC_000001.9:g.94281701_94281706del	NCBI36
NG_009073.1:g.82588_82593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-87_3051-82del MANE Select	ENSP00000359245.3:n.3051-87_3051-82del
ENST00000370225.3:c.3051-87_3051-82del	ENSP00000359245.3:n.3051-87_3051-82del
ENST00000536513.5:c.-64-3473_-64-3468del	ENSP00000439707.2:n.-64-3473_-64-3468del
NM_000350.2:c.3051-87_3051-82del	NP_000341.2:n.3051-87_3051-82del
NM_000350.3:c.3051-87_3051-82del MANE Select	NP_000341.2:n.3051-87_3051-82del