Canonical Allele Identifier: CA740504742

Gene: ABCA4

Linked Data

• dbSNP Id: rs1166300731
• MyVariant Identifiers: chr1:g.94522094_94522103del (hg19) ; chr1:g.94056538_94056547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056542_94056551del , CM000663.2:g.94056542_94056551del	GRCh38
NC_000001.10:g.94522098_94522107del , CM000663.1:g.94522098_94522107del	GRCh37
NC_000001.9:g.94294686_94294695del	NCBI36
NG_009073.1:g.69603_69612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+54_2382+63del MANE Select	ENSP00000359245.3:n.2382+54_2382+63del
ENST00000649773.1:c.2161-1232_2161-1223del	ENSP00000496882.1:n.2161-1232_2161-1223del
ENST00000370225.3:c.2382+54_2382+63del	ENSP00000359245.3:n.2382+54_2382+63del
ENST00000536513.5:c.-65+6627_-65+6636del	ENSP00000439707.2:n.-65+6627_-65+6636del
NM_000350.2:c.2382+54_2382+63del	NP_000341.2:n.2382+54_2382+63del
NM_000350.3:c.2382+54_2382+63del MANE Select	NP_000341.2:n.2382+54_2382+63del