Canonical Allele Identifier: CA2652478039

Gene: SNTA1

Linked Data

• gnomAD v4: 20-33438843-TCCAGCACCACCTCCTTGCCTGTCTTCTTGAGGACCTGCACCGCCTCATCATGGGTAGCAGAGGACAAGTCTTCCCCATTCACAGACAGGATGGCATCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33438847_33438945del , CM000682.2:g.33438847_33438945del	GRCh38
NC_000020.10:g.32026653_32026751del , CM000682.1:g.32026653_32026751del	GRCh37
NC_000020.9:g.31490314_31490412del	NCBI36
NG_011622.1:g.9951_10049del , LRG_332:g.9951_10049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217381.3:c.395_493del MANE Select	ENSP00000217381.2:p.Gly132_Leu164del
ENST00000217381.2:c.395_493del	ENSP00000217381.2:p.Gly132_Leu164del
NM_003098.2:c.395_493del , LRG_332t1:c.395_493del	NP_003089.1:p.Gly132_Leu164del
XM_005260517.1:c.395_493del	XP_005260574.1:p.Gly132_Leu164del
XM_011529007.1:c.395_493del	XP_011527309.1:p.Gly132_Leu164del
XM_011529008.1:c.395_493del	XP_011527310.1:p.Gly132_Leu164del
XR_936612.1:n.628_726del
XM_024451971.1:c.68_166del	XP_024307739.1:p.Gly23_Leu55del
NM_003098.3:c.395_493del MANE Select	NP_003089.1:p.Gly132_Leu164del