Canonical Allele Identifier: CA956807

Gene: ABCA4

Linked Data

• dbSNP Id: rs752889793
• ExAC: 1:94463368 GTTCT / G
• gnomAD v2: 1-94463368-GTTCT-G
• MyVariant Identifiers: chr1:g.94463369_94463372del (hg19) ; chr1:g.93997813_93997816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997813_93997816del , CM000663.2:g.93997813_93997816del	GRCh38
NC_000001.10:g.94463369_94463372del , CM000663.1:g.94463369_94463372del	GRCh37
NC_000001.9:g.94235957_94235960del	NCBI36
NG_009073.1:g.128334_128337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+45_6729+48del MANE Select	ENSP00000359245.3:n.6729+45_6729+48del
ENST00000370225.3:c.6729+45_6729+48del	ENSP00000359245.3:n.6729+45_6729+48del
ENST00000536513.5:c.3105+45_3105+48del	ENSP00000439707.2:n.3105+45_3105+48del
NM_000350.2:c.6729+45_6729+48del	NP_000341.2:n.6729+45_6729+48del
NM_000350.3:c.6729+45_6729+48del MANE Select	NP_000341.2:n.6729+45_6729+48del