Canonical Allele Identifier: CA2646648882

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94029400-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029403_94029404del , CM000663.2:g.94029403_94029404del	GRCh38
NC_000001.10:g.94494959_94494960del , CM000663.1:g.94494959_94494960del	GRCh37
NC_000001.9:g.94267547_94267548del	NCBI36
NG_009073.1:g.96748_96749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4539+43_4539+44del MANE Select	ENSP00000359245.3:n.4539+43_4539+44del
ENST00000370225.3:c.4539+43_4539+44del	ENSP00000359245.3:n.4539+43_4539+44del
ENST00000536513.5:c.915+43_915+44del	ENSP00000439707.2:n.915+43_915+44del
NM_000350.2:c.4539+43_4539+44del	NP_000341.2:n.4539+43_4539+44del
NM_000350.3:c.4539+43_4539+44del MANE Select	NP_000341.2:n.4539+43_4539+44del