Canonical Allele Identifier: CA2805586485

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278141_2278142insAGAA , CM000678.2:g.2278141_2278142insAGAA	GRCh38
NC_000016.9:g.2328142_2328143insAGAA , CM000678.1:g.2328142_2328143insAGAA	GRCh37
NC_000016.8:g.2268143_2268144insAGAA	NCBI36
NG_011790.1:g.67605_67606insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4719-73_4719-72insTTCT MANE Select	ENSP00000301732.5:n.4719-73_4719-72insTTCT
ENST00000301732.9:c.4719-73_4719-72insTTCT	ENSP00000301732.5:n.4719-73_4719-72insTTCT
ENST00000382381.7:c.4545-73_4545-72insTTCT	ENSP00000371818.3:n.4545-73_4545-72insTTCT
NM_001089.2:c.4719-73_4719-72insTTCT	NP_001080.2:n.4719-73_4719-72insTTCT
NM_001089.3:c.4719-73_4719-72insTTCT MANE Select	NP_001080.2:n.4719-73_4719-72insTTCT