Canonical Allele Identifier: CA1181406380

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997834_93997836delinsGCT , CM000663.2:g.93997834_93997836delinsGCT	GRCh38
NC_000001.10:g.94463390_94463392delinsGCT , CM000663.1:g.94463390_94463392delinsGCT	GRCh37
NC_000001.9:g.94235978_94235980delinsGCT	NCBI36
NG_009073.1:g.128314_128316delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+25_6729+27delinsAGC MANE Select	ENSP00000359245.3:n.6729+25_6729+27delinsAGC
ENST00000370225.3:c.6729+25_6729+27delinsAGC	ENSP00000359245.3:n.6729+25_6729+27delinsAGC
ENST00000536513.5:c.3105+25_3105+27delinsAGC	ENSP00000439707.2:n.3105+25_3105+27delinsAGC
NM_000350.2:c.6729+25_6729+27delinsAGC	NP_000341.2:n.6729+25_6729+27delinsAGC
NM_000350.3:c.6729+25_6729+27delinsAGC MANE Select	NP_000341.2:n.6729+25_6729+27delinsAGC