Canonical Allele Identifier: CA2744619348

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062895_94062960del , CM000663.2:g.94062895_94062960del	GRCh38
NC_000001.10:g.94528451_94528516del , CM000663.1:g.94528451_94528516del	GRCh37
NC_000001.9:g.94301039_94301104del	NCBI36
NG_009073.1:g.63190_63255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1760+152_1761-142del MANE Select	ENSP00000359245.3:n.1760+152_1761-142del
ENST00000649773.1:c.1760+152_1761-142del	ENSP00000496882.1:n.1760+152_1761-142del
ENST00000370225.3:c.1760+152_1761-142del	ENSP00000359245.3:n.1760+152_1761-142del
ENST00000536513.5:c.-65+214_-65+279del	ENSP00000439707.2:n.-65+214_-65+279del
NM_000350.2:c.1760+152_1761-142del	NP_000341.2:n.1760+152_1761-142del
NM_000350.3:c.1760+152_1761-142del MANE Select	NP_000341.2:n.1760+152_1761-142del