Canonical Allele Identifier: CA524697328

Gene: ABCA4

Linked Data

• dbSNP Id: rs1176862742
• gnomAD v2: 1-94466649-TGGTGGGCTCATCCTGGGG-T
• gnomAD v4: 1-94001093-TGGTGGGCTCATCCTGGGG-T
• MyVariant Identifiers: chr1:g.94466650_94466667del (hg19) ; chr1:g.94001094_94001111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001099_94001116del , CM000663.2:g.94001099_94001116del	GRCh38
NC_000001.10:g.94466655_94466672del , CM000663.1:g.94466655_94466672del	GRCh37
NC_000001.9:g.94239243_94239260del	NCBI36
NG_009073.1:g.125039_125056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6283-6_6294del
ENST00000370225.3:c.6283-6_6294del
ENST00000536513.5:c.2659-6_2670del
NM_000350.2:c.6283-6_6294del
NM_000350.3:c.6283-6_6294del