Canonical Allele Identifier: CA2202153054
Gene: ABCA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289460_2289463delinsGCTC , CM000678.2:g.2289460_2289463delinsGCTC GRCh38
NC_000016.9:g.2339461_2339464delinsGCTC , CM000678.1:g.2339461_2339464delinsGCTC GRCh37
NC_000016.8:g.2279462_2279465delinsGCTC NCBI36
NG_011790.1:g.56284_56287delinsGAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2671_2674delinsGAGC MANE Select ENSP00000301732.5:p.Glu891=
ENST00000301732.9:c.2671_2674delinsGAGC ENSP00000301732.5:p.Glu891=
ENST00000382381.7:c.2497_2500delinsGAGC ENSP00000371818.3:p.Glu833=
ENST00000563623.5:n.3234_3237delinsGAGC
NM_001089.2:c.2671_2674delinsGAGC NP_001080.2:p.Glu891=
NM_001089.3:c.2671_2674delinsGAGC MANE Select NP_001080.2:p.Glu891=
Search 100 bp 5'
Search 100 bp 3'