Canonical Allele Identifier: CA2577372484
Gene: SNTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33408809_33408815dup , CM000682.2:g.33408809_33408815dup GRCh38
NC_000020.10:g.31996615_31996621dup , CM000682.1:g.31996615_31996621dup GRCh37
NC_000020.9:g.31460276_31460282dup NCBI36
NG_011622.1:g.40080_40086dup , LRG_332:g.40080_40086dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.1313_1319dup MANE Select ENSP00000217381.2:p.Ala441ArgfsTer21
ENST00000217381.2:c.1313_1319dup ENSP00000217381.2:p.Ala441ArgfsTer21
NM_003098.2:c.1313_1319dup , LRG_332t1:c.1313_1319dup NP_003089.1:p.Ala441ArgfsTer21
XM_005260517.1:c.1313_1319dup XP_005260574.1:p.Ala441ArgfsTer21
XM_011529007.1:c.1345_1351dup XP_011527309.1:p.Gln451ProfsTer?
XM_011529008.1:c.1345_1351dup XP_011527310.1:p.Gln451ProfsTer?
XR_936612.1:n.1349_1355dup
XM_024451971.1:c.986_992dup XP_024307739.1:p.Ala332ArgfsTer21
NM_003098.3:c.1313_1319dup MANE Select NP_003089.1:p.Ala441ArgfsTer21