Canonical Allele Identifier: CA1201536909

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612826_158612829delinsGTCT , CM000663.2:g.158612826_158612829delinsGTCT	GRCh38
NC_000001.10:g.158582616_158582619delinsGTCT , CM000663.1:g.158582616_158582619delinsGTCT	GRCh37
NC_000001.9:g.156849240_156849243delinsGTCT	NCBI36
NG_011474.1:g.78888_78891delinsAGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7122_7125delinsAGAC MANE Select	ENSP00000495214.1:p.Glu2374=
ENST00000368147.8:c.7122_7125delinsAGAC	ENSP00000357129.4:p.Glu2374=
ENST00000481212.5:n.563_566delinsAGAC
ENST00000498708.1:n.554_557delinsAGAC
ENST00000614909.4:c.7122_7125delinsAGAC	ENSP00000482595.1:p.Glu2374=
NM_003126.2:c.7122_7125delinsAGAC	NP_003117.2:p.Glu2374=
XM_011509916.1:c.7122_7125delinsAGAC	XP_011508218.1:p.Glu2374=
XM_011509917.1:c.7104_7107delinsAGAC	XP_011508219.1:p.Glu2368=
NM_003126.3:c.7122_7125delinsAGAC	NP_003117.2:p.Glu2374=
XM_011509916.2:c.7122_7125delinsAGAC	XP_011508218.1:p.Glu2374=
XM_011509917.3:c.7104_7107delinsAGAC	XP_011508219.1:p.Glu2368=
NM_003126.4:c.7122_7125delinsAGAC MANE Select	NP_003117.2:p.Glu2374=