Canonical Allele Identifier: CA1181447867

Gene: ABCA4

Linked Data

• dbSNP Id: rs1662608915
• gnomAD v4: 1-94111664-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111664_94111665insTA , CM000663.2:g.94111664_94111665insTA	GRCh38
NC_000001.10:g.94577220_94577221insTA , CM000663.1:g.94577220_94577221insTA	GRCh37
NC_000001.9:g.94349808_94349809insTA	NCBI36
NG_009073.1:g.14485_14486insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-86_161-85insTA MANE Select	ENSP00000359245.3:n.161-86_161-85insTA
ENST00000649773.1:c.161-86_161-85insTA	ENSP00000496882.1:n.161-86_161-85insTA
ENST00000370225.3:c.161-86_161-85insTA	ENSP00000359245.3:n.161-86_161-85insTA
NM_000350.2:c.161-86_161-85insTA	NP_000341.2:n.161-86_161-85insTA
NM_000350.3:c.161-86_161-85insTA MANE Select	NP_000341.2:n.161-86_161-85insTA