Canonical Allele Identifier: CA2744617844

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043533_94043538del , CM000663.2:g.94043533_94043538del	GRCh38
NC_000001.10:g.94509089_94509094del , CM000663.1:g.94509089_94509094del	GRCh37
NC_000001.9:g.94281677_94281682del	NCBI36
NG_009073.1:g.82613_82618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-62_3051-57del MANE Select	ENSP00000359245.3:n.3051-62_3051-57del
ENST00000370225.3:c.3051-62_3051-57del	ENSP00000359245.3:n.3051-62_3051-57del
ENST00000536513.5:c.-64-3448_-64-3443del	ENSP00000439707.2:n.-64-3448_-64-3443del
NM_000350.2:c.3051-62_3051-57del	NP_000341.2:n.3051-62_3051-57del
NM_000350.3:c.3051-62_3051-57del MANE Select	NP_000341.2:n.3051-62_3051-57del