Canonical Allele Identifier: CA2646648886

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94029403-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029405del , CM000663.2:g.94029405del	GRCh38
NC_000001.10:g.94494961del , CM000663.1:g.94494961del	GRCh37
NC_000001.9:g.94267549del	NCBI36
NG_009073.1:g.96746del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4539+41del MANE Select	ENSP00000359245.3:n.4539+41del
ENST00000370225.3:c.4539+41del	ENSP00000359245.3:n.4539+41del
ENST00000536513.5:c.915+41del	ENSP00000439707.2:n.915+41del
NM_000350.2:c.4539+41del	NP_000341.2:n.4539+41del
NM_000350.3:c.4539+41del MANE Select	NP_000341.2:n.4539+41del