Canonical Allele Identifier: CA620378120
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1290944096
gnomAD v2: 16-2390589-G-GGGC
gnomAD v3: 16-2340588-G-GGGC
gnomAD v4: 16-2340588-G-GGGC
MyVariant Identifiers: chr16:g.2390589_2390590insGGC (hg19) chr16:g.2340588_2340589insGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340598_2340600dup , CM000678.2:g.2340598_2340600dup GRCh38
NC_000016.9:g.2390599_2390601dup , CM000678.1:g.2390599_2390601dup GRCh37
NC_000016.8:g.2330600_2330602dup NCBI36
NG_011790.1:g.5156_5158dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-557_-555dup (ABCA3) MANE Select ENSP00000301732.5:n.-557_-555dup
ENST00000640929.1:n.42+1267_42+1269dup (ABCA17P)
ENST00000301732.9:c.-557_-555dup (ABCA3) ENSP00000301732.5:n.-557_-555dup
ENST00000382381.7:c.-557_-555dup (ABCA3) ENSP00000371818.3:n.-557_-555dup
ENST00000512848.5:n.182+1267_182+1269dup (ABCA17P)
NM_001089.2:c.-557_-555dup (ABCA3) NP_001080.2:n.-557_-555dup
NM_001089.3:c.-557_-555dup (ABCA3) MANE Select NP_001080.2:n.-557_-555dup
Search 100 bp 5'
Search 100 bp 3'