Canonical Allele Identifier: CA1181428743

Gene: ABCA4

Linked Data

• dbSNP Id: rs1661148611

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062295_94062299del , CM000663.2:g.94062295_94062299del	GRCh38
NC_000001.10:g.94527851_94527855del , CM000663.1:g.94527851_94527855del	GRCh37
NC_000001.9:g.94300439_94300443del	NCBI36
NG_009073.1:g.63856_63860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+283_1937+287del MANE Select	ENSP00000359245.3:n.1937+283_1937+287del
ENST00000649773.1:c.1937+283_1937+287del	ENSP00000496882.1:n.1937+283_1937+287del
ENST00000370225.3:c.1937+283_1937+287del	ENSP00000359245.3:n.1937+283_1937+287del
ENST00000536513.5:c.-65+880_-65+884del	ENSP00000439707.2:n.-65+880_-65+884del
NM_000350.2:c.1937+283_1937+287del	NP_000341.2:n.1937+283_1937+287del
NM_000350.3:c.1937+283_1937+287del MANE Select	NP_000341.2:n.1937+283_1937+287del