Canonical Allele Identifier: CA2646653677

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94111684-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111689_94111691del , CM000663.2:g.94111689_94111691del	GRCh38
NC_000001.10:g.94577245_94577247del , CM000663.1:g.94577245_94577247del	GRCh37
NC_000001.9:g.94349833_94349835del	NCBI36
NG_009073.1:g.14463_14465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-108_161-106del MANE Select	ENSP00000359245.3:n.161-108_161-106del
ENST00000649773.1:c.161-108_161-106del	ENSP00000496882.1:n.161-108_161-106del
ENST00000370225.3:c.161-108_161-106del	ENSP00000359245.3:n.161-108_161-106del
NM_000350.2:c.161-108_161-106del	NP_000341.2:n.161-108_161-106del
NM_000350.3:c.161-108_161-106del MANE Select	NP_000341.2:n.161-108_161-106del