Canonical Allele Identifier: CA1149123779

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997842_93997857delinsTGCCCCAGGGCCAACT , CM000663.2:g.93997842_93997857delinsTGCCCCAGGGCCAACT	GRCh38
NC_000001.10:g.94463398_94463413delinsTGCCCCAGGGCCAACT , CM000663.1:g.94463398_94463413delinsTGCCCCAGGGCCAACT	GRCh37
NC_000001.9:g.94235986_94236001delinsTGCCCCAGGGCCAACT	NCBI36
NG_009073.1:g.128293_128308delinsAGTTGGCCCTGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+4_6729+19delinsAGTTGGCCCTGGGGCA MANE Select	ENSP00000359245.3:n.6729+4_6729+19delinsAGTTGGCCCTGGGGCA
ENST00000370225.3:c.6729+4_6729+19delinsAGTTGGCCCTGGGGCA	ENSP00000359245.3:n.6729+4_6729+19delinsAGTTGGCCCTGGGGCA
ENST00000536513.5:c.3105+4_3105+19delinsAGTTGGCCCTGGGGCA	ENSP00000439707.2:n.3105+4_3105+19delinsAGTTGGCCCTGGGGCA
NM_000350.2:c.6729+4_6729+19delinsAGTTGGCCCTGGGGCA	NP_000341.2:n.6729+4_6729+19delinsAGTTGGCCCTGGGGCA
NM_000350.3:c.6729+4_6729+19delinsAGTTGGCCCTGGGGCA MANE Select	NP_000341.2:n.6729+4_6729+19delinsAGTTGGCCCTGGGGCA