Canonical Allele Identifier: CA2744618843

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056440_94056538del , CM000663.2:g.94056440_94056538del	GRCh38
NC_000001.10:g.94521996_94522094del , CM000663.1:g.94521996_94522094del	GRCh37
NC_000001.9:g.94294584_94294682del	NCBI36
NG_009073.1:g.69613_69711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+64_2382+162del MANE Select	ENSP00000359245.3:n.2382+64_2382+162del
ENST00000649773.1:c.2161-1222_2161-1124del	ENSP00000496882.1:n.2161-1222_2161-1124del
ENST00000370225.3:c.2382+64_2382+162del	ENSP00000359245.3:n.2382+64_2382+162del
ENST00000536513.5:c.-65+6637_-65+6735del	ENSP00000439707.2:n.-65+6637_-65+6735del
NM_000350.2:c.2382+64_2382+162del	NP_000341.2:n.2382+64_2382+162del
NM_000350.3:c.2382+64_2382+162del MANE Select	NP_000341.2:n.2382+64_2382+162del