Canonical Allele Identifier: CA2535545850

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062281_94062282insAAGGGTTCT , CM000663.2:g.94062281_94062282insAAGGGTTCT	GRCh38
NC_000001.10:g.94527837_94527838insAAGGGTTCT , CM000663.1:g.94527837_94527838insAAGGGTTCT	GRCh37
NC_000001.9:g.94300425_94300426insAAGGGTTCT	NCBI36
NG_009073.1:g.63868_63869insAGAACCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+295_1937+296insAGAACCCTT MANE Select	ENSP00000359245.3:n.1937+295_1937+296insAGAACCCTT
ENST00000649773.1:c.1937+295_1937+296insAGAACCCTT	ENSP00000496882.1:n.1937+295_1937+296insAGAACCCTT
ENST00000370225.3:c.1937+295_1937+296insAGAACCCTT	ENSP00000359245.3:n.1937+295_1937+296insAGAACCCTT
ENST00000536513.5:c.-65+892_-65+893insAGAACCCTT	ENSP00000439707.2:n.-65+892_-65+893insAGAACCCTT
NM_000350.2:c.1937+295_1937+296insAGAACCCTT	NP_000341.2:n.1937+295_1937+296insAGAACCCTT
NM_000350.3:c.1937+295_1937+296insAGAACCCTT MANE Select	NP_000341.2:n.1937+295_1937+296insAGAACCCTT