Canonical Allele Identifier: CA957080

Gene: ABCA4

Linked Data

• dbSNP Id: rs1491329070
• ExAC: 1:94473765 TCA / T
• gnomAD v2: 1-94473765-TCA-T
• gnomAD v3: 1-94008209-TCA-T
• gnomAD v4: 1-94008209-TCA-T
• MyVariant Identifiers: chr1:g.94473766_94473767del (hg19) ; chr1:g.94008210_94008211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008213_94008214del , CM000663.2:g.94008213_94008214del	GRCh38
NC_000001.10:g.94473769_94473770del , CM000663.1:g.94473769_94473770del	GRCh37
NC_000001.9:g.94246357_94246358del	NCBI36
NG_009073.1:g.117939_117940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5898+24_5898+25del MANE Select	ENSP00000359245.3:n.5898+24_5898+25del
ENST00000370225.3:c.5898+24_5898+25del	ENSP00000359245.3:n.5898+24_5898+25del
ENST00000465352.1:n.314+24_314+25del
ENST00000536513.5:c.2274+24_2274+25del	ENSP00000439707.2:n.2274+24_2274+25del
NM_000350.2:c.5898+24_5898+25del	NP_000341.2:n.5898+24_5898+25del
NM_000350.3:c.5898+24_5898+25del MANE Select	NP_000341.2:n.5898+24_5898+25del