Canonical Allele Identifier: CA1149104042

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007578_94007584delinsTTCTTCT , CM000663.2:g.94007578_94007584delinsTTCTTCT	GRCh38
NC_000001.10:g.94473134_94473140delinsTTCTTCT , CM000663.1:g.94473134_94473140delinsTTCTTCT	GRCh37
NC_000001.9:g.94245722_94245728delinsTTCTTCT	NCBI36
NG_009073.1:g.118566_118572delinsAGAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6005+50_6005+56delinsAGAAGAA MANE Select	ENSP00000359245.3:n.6005+50_6005+56delinsAGAAGAA
ENST00000370225.3:c.6005+50_6005+56delinsAGAAGAA	ENSP00000359245.3:n.6005+50_6005+56delinsAGAAGAA
ENST00000465352.1:n.421+50_421+56delinsAGAAGAA
ENST00000484388.1:n.119+50_119+56delinsAGAAGAA
ENST00000536513.5:c.2381+50_2381+56delinsAGAAGAA	ENSP00000439707.2:n.2381+50_2381+56delinsAGAAGAA
NM_000350.2:c.6005+50_6005+56delinsAGAAGAA	NP_000341.2:n.6005+50_6005+56delinsAGAAGAA
NM_000350.3:c.6005+50_6005+56delinsAGAAGAA MANE Select	NP_000341.2:n.6005+50_6005+56delinsAGAAGAA