Canonical Allele Identifier: CA635719600
Gene: SNTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1235753387
gnomAD v2: 20-32031372-CCCCGGCGCGCAGCTCCAGCAG-C
gnomAD v3: 20-33443566-CCCCGGCGCGCAGCTCCAGCAG-C
gnomAD v4: 20-33443566-CCCCGGCGCGCAGCTCCAGCAG-C
MyVariant Identifiers: chr20:g.32031373_32031393del (hg19) chr20:g.33443567_33443587del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33443572_33443592del , CM000682.2:g.33443572_33443592del GRCh38
NC_000020.10:g.32031378_32031398del , CM000682.1:g.32031378_32031398del GRCh37
NC_000020.9:g.31495039_31495059del NCBI36
NG_011622.1:g.5306_5326del , LRG_332:g.5306_5326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.34_54del MANE Select ENSP00000217381.2:p.Leu12_Gly18del
ENST00000217381.2:c.34_54del ENSP00000217381.2:p.Leu12_Gly18del
NM_003098.2:c.34_54del , LRG_332t1:c.34_54del NP_003089.1:p.Leu12_Gly18del
XM_005260517.1:c.34_54del XP_005260574.1:p.Leu12_Gly18del
XM_011529007.1:c.34_54del XP_011527309.1:p.Leu12_Gly18del
XM_011529008.1:c.34_54del XP_011527310.1:p.Leu12_Gly18del
XR_936612.1:n.267_287del
NM_003098.3:c.34_54del MANE Select NP_003089.1:p.Leu12_Gly18del
Search 100 bp 5'
Search 100 bp 3'