Canonical Allele Identifier: CA2744616639

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030694_94030695insACA , CM000663.2:g.94030694_94030695insACA	GRCh38
NC_000001.10:g.94496250_94496251insACA , CM000663.1:g.94496250_94496251insACA	GRCh37
NC_000001.9:g.94268838_94268839insACA	NCBI36
NG_009073.1:g.95455_95456insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-169_4254-168insTGT MANE Select	ENSP00000359245.3:n.4254-169_4254-168insTGT
ENST00000370225.3:c.4254-169_4254-168insTGT	ENSP00000359245.3:n.4254-169_4254-168insTGT
ENST00000536513.5:c.630-169_630-168insTGT	ENSP00000439707.2:n.630-169_630-168insTGT
NM_000350.2:c.4254-169_4254-168insTGT	NP_000341.2:n.4254-169_4254-168insTGT
NM_000350.3:c.4254-169_4254-168insTGT MANE Select	NP_000341.2:n.4254-169_4254-168insTGT