Canonical Allele Identifier: CA956813

Gene: ABCA4

Linked Data

• dbSNP Id: rs777939798
• ExAC: 1:94463390 GCT / G
• gnomAD v2: 1-94463390-GCT-G
• MyVariant Identifiers: chr1:g.94463391_94463392del (hg19) ; chr1:g.93997835_93997836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997838_93997839del , CM000663.2:g.93997838_93997839del	GRCh38
NC_000001.10:g.94463394_94463395del , CM000663.1:g.94463394_94463395del	GRCh37
NC_000001.9:g.94235982_94235983del	NCBI36
NG_009073.1:g.128314_128315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+25_6729+26del MANE Select	ENSP00000359245.3:n.6729+25_6729+26del
ENST00000370225.3:c.6729+25_6729+26del	ENSP00000359245.3:n.6729+25_6729+26del
ENST00000536513.5:c.3105+25_3105+26del	ENSP00000439707.2:n.3105+25_3105+26del
NM_000350.2:c.6729+25_6729+26del	NP_000341.2:n.6729+25_6729+26del
NM_000350.3:c.6729+25_6729+26del MANE Select	NP_000341.2:n.6729+25_6729+26del