Canonical Allele Identifier: CA2360754996

Gene: SNTA1

Linked Data

• dbSNP Id: rs1990634777
• gnomAD v4: 20-33443544-TCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33443546_33443547del , CM000682.2:g.33443546_33443547del	GRCh38
NC_000020.10:g.32031352_32031353del , CM000682.1:g.32031352_32031353del	GRCh37
NC_000020.9:g.31495013_31495014del	NCBI36
NG_011622.1:g.5347_5348del , LRG_332:g.5347_5348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.75_76del MANE Select	ENSP00000217381.2:p.Glu26AlafsTer?
ENST00000217381.2:c.75_76del	ENSP00000217381.2:p.Glu26AlafsTer?
NM_003098.2:c.75_76del , LRG_332t1:c.75_76del	NP_003089.1:p.Glu26AlafsTer?
XM_005260517.1:c.75_76del	XP_005260574.1:p.Glu26AlafsTer?
XM_011529007.1:c.75_76del	XP_011527309.1:p.Glu26AlafsTer?
XM_011529008.1:c.75_76del	XP_011527310.1:p.Glu26AlafsTer?
XR_936612.1:n.308_309del
NM_003098.3:c.75_76del MANE Select	NP_003089.1:p.Glu26AlafsTer?