Canonical Allele Identifier: CA2652478418
Gene: SNTA1 HGNC NCBI

Linked Data

gnomAD v4: 20-33443580-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443582del , CM000682.2:g.33443582del GRCh38
NC_000020.10:g.32031388del , CM000682.1:g.32031388del GRCh37
NC_000020.9:g.31495049del NCBI36
NG_011622.1:g.5312del , LRG_332:g.5312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.40del MANE Select ENSP00000217381.2:p.Glu14SerfsTer20
ENST00000217381.2:c.40del ENSP00000217381.2:p.Glu14SerfsTer20
NM_003098.2:c.40del , LRG_332t1:c.40del NP_003089.1:p.Glu14SerfsTer20
XM_005260517.1:c.40del XP_005260574.1:p.Glu14SerfsTer20
XM_011529007.1:c.40del XP_011527309.1:p.Glu14SerfsTer20
XM_011529008.1:c.40del XP_011527310.1:p.Glu14SerfsTer20
XR_936612.1:n.273del
NM_003098.3:c.40del MANE Select NP_003089.1:p.Glu14SerfsTer20
Search 100 bp 5'
Search 100 bp 3'