Canonical Allele Identifier: CA2573051398

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 1330846
• ClinVar RCV Id: RCV001811909
• dbSNP Id: rs2101744936

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612856_158612857delinsCT , CM000663.2:g.158612856_158612857delinsCT	GRCh38
NC_000001.10:g.158582646_158582647delinsCT , CM000663.1:g.158582646_158582647delinsCT	GRCh37
NC_000001.9:g.156849270_156849271delinsCT	NCBI36
NG_011474.1:g.78860_78861delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7094_7095delinsAG MANE Select	ENSP00000495214.1:p.Ala2365Glu
ENST00000368147.8:c.7094_7095delinsAG	ENSP00000357129.4:p.Ala2365Glu
ENST00000481212.5:n.535_536delinsAG
ENST00000498708.1:n.526_527delinsAG
ENST00000614909.4:c.7094_7095delinsAG	ENSP00000482595.1:p.Ala2365Glu
NM_003126.2:c.7094_7095delinsAG	NP_003117.2:p.Ala2365Glu
XM_011509916.1:c.7094_7095delinsAG	XP_011508218.1:p.Ala2365Glu
XM_011509917.1:c.7076_7077delinsAG	XP_011508219.1:p.Ala2359Glu
NM_003126.3:c.7094_7095delinsAG	NP_003117.2:p.Ala2365Glu
XM_011509916.2:c.7094_7095delinsAG	XP_011508218.1:p.Ala2365Glu
XM_011509917.3:c.7076_7077delinsAG	XP_011508219.1:p.Ala2359Glu
NM_003126.4:c.7094_7095delinsAG MANE Select	NP_003117.2:p.Ala2365Glu