Canonical Allele Identifier: CA620387415
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1369801533
gnomAD v2: 16-2326625-CCCTGCTTGCCCGTCCTGTCCCTG-C
gnomAD v3: 16-2276624-CCCTGCTTGCCCGTCCTGTCCCTG-C
gnomAD v4: 16-2276624-CCCTGCTTGCCCGTCCTGTCCCTG-C
MyVariant Identifiers: chr16:g.2326626_2326648del (hg19) chr16:g.2276625_2276647del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2276629_2276651del , CM000678.2:g.2276629_2276651del GRCh38
NC_000016.9:g.2326630_2326652del , CM000678.1:g.2326630_2326652del GRCh37
NC_000016.8:g.2266631_2266653del NCBI36
NG_011790.1:g.69100_69122del

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.*27_*49del MANE Select ENSP00000301732.5:n.*27_*49del
ENST00000301732.9:c.*27_*49del ENSP00000301732.5:n.*27_*49del
ENST00000382381.7:c.*27_*49del ENSP00000371818.3:n.*27_*49del
NM_001089.2:c.*27_*49del NP_001080.2:n.*27_*49del
NM_001089.3:c.*27_*49del MANE Select NP_001080.2:n.*27_*49del
Search 100 bp 5'
Search 100 bp 3'