Canonical Allele Identifier: CA1004564347

Gene: ABCA4

Linked Data

• dbSNP Id: rs1662612481
• gnomAD v3: 1-94111786-TA-T
• gnomAD v4: 1-94111786-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111787del , CM000663.2:g.94111787del	GRCh38
NC_000001.10:g.94577343del , CM000663.1:g.94577343del	GRCh37
NC_000001.9:g.94349931del	NCBI36
NG_009073.1:g.14363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-208del MANE Select	ENSP00000359245.3:n.161-208del
ENST00000649773.1:c.161-208del	ENSP00000496882.1:n.161-208del
ENST00000370225.3:c.161-208del	ENSP00000359245.3:n.161-208del
NM_000350.2:c.161-208del	NP_000341.2:n.161-208del
NM_000350.3:c.161-208del MANE Select	NP_000341.2:n.161-208del