Canonical Allele Identifier: CA2652478042

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33438956-CTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438961_33438964del , CM000682.2:g.33438961_33438964del	GRCh38
NC_000020.10:g.32026767_32026770del , CM000682.1:g.32026767_32026770del	GRCh37
NC_000020.9:g.31490428_31490431del	NCBI36
NG_011622.1:g.9933_9936del , LRG_332:g.9933_9936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.377_380del MANE Select	ENSP00000217381.2:p.Thr126ArgfsTer12
ENST00000217381.2:c.377_380del	ENSP00000217381.2:p.Thr126ArgfsTer12
NM_003098.2:c.377_380del , LRG_332t1:c.377_380del	NP_003089.1:p.Thr126ArgfsTer12
XM_005260517.1:c.377_380del	XP_005260574.1:p.Thr126ArgfsTer12
XM_011529007.1:c.377_380del	XP_011527309.1:p.Thr126ArgfsTer12
XM_011529008.1:c.377_380del	XP_011527310.1:p.Thr126ArgfsTer12
XR_936612.1:n.610_613del
XM_024451971.1:c.50_53del	XP_024307739.1:p.Thr17ArgfsTer12
NM_003098.3:c.377_380del MANE Select	NP_003089.1:p.Thr126ArgfsTer12