Canonical Allele Identifier: CA1201537001

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613086_158613087delinsGC , CM000663.2:g.158613086_158613087delinsGC	GRCh38
NC_000001.10:g.158582876_158582877delinsGC , CM000663.1:g.158582876_158582877delinsGC	GRCh37
NC_000001.9:g.156849500_156849501delinsGC	NCBI36
NG_011474.1:g.78630_78631delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-126_6990-125delinsGC MANE Select	ENSP00000495214.1:n.6990-126_6990-125delinsGC
ENST00000368147.8:c.6990-126_6990-125delinsGC	ENSP00000357129.4:n.6990-126_6990-125delinsGC
ENST00000481212.5:n.431-126_431-125delinsGC
ENST00000498708.1:n.422-126_422-125delinsGC
ENST00000614909.4:c.6990-126_6990-125delinsGC	ENSP00000482595.1:n.6990-126_6990-125delinsGC
NM_003126.2:c.6990-126_6990-125delinsGC	NP_003117.2:n.6990-126_6990-125delinsGC
XM_011509916.1:c.6990-126_6990-125delinsGC	XP_011508218.1:n.6990-126_6990-125delinsGC
XM_011509917.1:c.6972-126_6972-125delinsGC	XP_011508219.1:n.6972-126_6972-125delinsGC
NM_003126.3:c.6990-126_6990-125delinsGC	NP_003117.2:n.6990-126_6990-125delinsGC
XM_011509916.2:c.6990-126_6990-125delinsGC	XP_011508218.1:n.6990-126_6990-125delinsGC
XM_011509917.3:c.6972-126_6972-125delinsGC	XP_011508219.1:n.6972-126_6972-125delinsGC
NM_003126.4:c.6990-126_6990-125delinsGC MANE Select	NP_003117.2:n.6990-126_6990-125delinsGC