Canonical Allele Identifier: CA1181428819

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062461_94062462delinsTC , CM000663.2:g.94062461_94062462delinsTC	GRCh38
NC_000001.10:g.94528017_94528018delinsTC , CM000663.1:g.94528017_94528018delinsTC	GRCh37
NC_000001.9:g.94300605_94300606delinsTC	NCBI36
NG_009073.1:g.63688_63689delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+115_1937+116delinsGA MANE Select	ENSP00000359245.3:n.1937+115_1937+116delinsGA
ENST00000649773.1:c.1937+115_1937+116delinsGA	ENSP00000496882.1:n.1937+115_1937+116delinsGA
ENST00000370225.3:c.1937+115_1937+116delinsGA	ENSP00000359245.3:n.1937+115_1937+116delinsGA
ENST00000536513.5:c.-65+712_-65+713delinsGA	ENSP00000439707.2:n.-65+712_-65+713delinsGA
NM_000350.2:c.1937+115_1937+116delinsGA	NP_000341.2:n.1937+115_1937+116delinsGA
NM_000350.3:c.1937+115_1937+116delinsGA MANE Select	NP_000341.2:n.1937+115_1937+116delinsGA