Canonical Allele Identifier: CA2586966922

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041385_94041397del , CM000663.2:g.94041385_94041397del	GRCh38
NC_000001.10:g.94506941_94506953del , CM000663.1:g.94506941_94506953del	GRCh37
NC_000001.9:g.94279529_94279541del	NCBI36
NG_009073.1:g.84753_84765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3334_3346del MANE Select	ENSP00000359245.3:p.Thr1112ProfsTer?
ENST00000370225.3:c.3334_3346del	ENSP00000359245.3:p.Thr1112ProfsTer?
ENST00000536513.5:c.-64-1308_-64-1296del	ENSP00000439707.2:n.-64-1308_-64-1296del
NM_000350.2:c.3334_3346del	NP_000341.2:p.Thr1112ProfsTer?
NM_000350.3:c.3334_3346del MANE Select	NP_000341.2:p.Thr1112ProfsTer?