Canonical Allele Identifier: CA2202145978

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093648855

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2277827_2277838del , CM000678.2:g.2277827_2277838del	GRCh38
NC_000016.9:g.2327828_2327839del , CM000678.1:g.2327828_2327839del	GRCh37
NC_000016.8:g.2267829_2267840del	NCBI36
NG_011790.1:g.67913_67924del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.4909+45_4909+56del MANE Select	ENSP00000301732.5:n.4909+45_4909+56del
ENST00000301732.9:c.4909+45_4909+56del	ENSP00000301732.5:n.4909+45_4909+56del
ENST00000382381.7:c.4735+45_4735+56del	ENSP00000371818.3:n.4735+45_4735+56del
NM_001089.2:c.4909+45_4909+56del	NP_001080.2:n.4909+45_4909+56del
NM_001089.3:c.4909+45_4909+56del MANE Select	NP_001080.2:n.4909+45_4909+56del