Canonical Allele Identifier: CA2516349944
Gene: SNTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33438590_33438593del , CM000682.2:g.33438590_33438593del GRCh38
NC_000020.10:g.32026396_32026399del , CM000682.1:g.32026396_32026399del GRCh37
NC_000020.9:g.31490057_31490060del NCBI36
NG_011622.1:g.10300_10303del , LRG_332:g.10300_10303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000217381.3:c.496+248_496+251del MANE Select ENSP00000217381.2:n.496+248_496+251del
ENST00000217381.2:c.496+248_496+251del ENSP00000217381.2:n.496+248_496+251del
NM_003098.2:c.496+248_496+251del , LRG_332t1:c.496+248_496+251del NP_003089.1:n.496+248_496+251del
XM_005260517.1:c.496+248_496+251del XP_005260574.1:n.496+248_496+251del
XM_011529007.1:c.496+248_496+251del XP_011527309.1:n.496+248_496+251del
XM_011529008.1:c.496+248_496+251del XP_011527310.1:n.496+248_496+251del
XR_936612.1:n.729+248_729+251del
XM_024451971.1:c.169+248_169+251del XP_024307739.1:n.169+248_169+251del
NM_003098.3:c.496+248_496+251del MANE Select NP_003089.1:n.496+248_496+251del