Canonical Allele Identifier: CA1181406371

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997812_93997816delinsGTTCT , CM000663.2:g.93997812_93997816delinsGTTCT	GRCh38
NC_000001.10:g.94463368_94463372delinsGTTCT , CM000663.1:g.94463368_94463372delinsGTTCT	GRCh37
NC_000001.9:g.94235956_94235960delinsGTTCT	NCBI36
NG_009073.1:g.128334_128338delinsAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+45_6729+49delinsAGAAC MANE Select	ENSP00000359245.3:n.6729+45_6729+49delinsAGAAC
ENST00000370225.3:c.6729+45_6729+49delinsAGAAC	ENSP00000359245.3:n.6729+45_6729+49delinsAGAAC
ENST00000536513.5:c.3105+45_3105+49delinsAGAAC	ENSP00000439707.2:n.3105+45_3105+49delinsAGAAC
NM_000350.2:c.6729+45_6729+49delinsAGAAC	NP_000341.2:n.6729+45_6729+49delinsAGAAC
NM_000350.3:c.6729+45_6729+49delinsAGAAC MANE Select	NP_000341.2:n.6729+45_6729+49delinsAGAAC