Canonical Allele Identifier: CA2631186940
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2277832-A-AGGGGCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277833_2277839dup , CM000678.2:g.2277833_2277839dup GRCh38
NC_000016.9:g.2327834_2327840dup , CM000678.1:g.2327834_2327840dup GRCh37
NC_000016.8:g.2267835_2267841dup NCBI36
NG_011790.1:g.67908_67914dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4909+40_4909+46dup MANE Select ENSP00000301732.5:n.4909+40_4909+46dup
ENST00000301732.9:c.4909+40_4909+46dup ENSP00000301732.5:n.4909+40_4909+46dup
ENST00000382381.7:c.4735+40_4735+46dup ENSP00000371818.3:n.4735+40_4735+46dup
NM_001089.2:c.4909+40_4909+46dup NP_001080.2:n.4909+40_4909+46dup
NM_001089.3:c.4909+40_4909+46dup MANE Select NP_001080.2:n.4909+40_4909+46dup
Search 100 bp 5'
Search 100 bp 3'