Canonical Allele Identifier: CA740504728

Gene: ABCA4

Linked Data

• dbSNP Id: rs1255599057
• gnomAD v3: 1-94056450-TGCCCCTGTACATTTTA-T
• gnomAD v4: 1-94056450-TGCCCCTGTACATTTTA-T
• MyVariant Identifiers: chr1:g.94522007_94522022del (hg19) ; chr1:g.94056451_94056466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056454_94056469del , CM000663.2:g.94056454_94056469del	GRCh38
NC_000001.10:g.94522010_94522025del , CM000663.1:g.94522010_94522025del	GRCh37
NC_000001.9:g.94294598_94294613del	NCBI36
NG_009073.1:g.69684_69699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+135_2382+150del MANE Select	ENSP00000359245.3:n.2382+135_2382+150del
ENST00000649773.1:c.2161-1151_2161-1136del	ENSP00000496882.1:n.2161-1151_2161-1136del
ENST00000370225.3:c.2382+135_2382+150del	ENSP00000359245.3:n.2382+135_2382+150del
ENST00000536513.5:c.-65+6708_-65+6723del	ENSP00000439707.2:n.-65+6708_-65+6723del
NM_000350.2:c.2382+135_2382+150del	NP_000341.2:n.2382+135_2382+150del
NM_000350.3:c.2382+135_2382+150del MANE Select	NP_000341.2:n.2382+135_2382+150del