Canonical Allele Identifier: CA2509050253

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158613014_158613015insATATATTACCAAAGAAGA , CM000663.2:g.158613014_158613015insATATATTACCAAAGAAGA	GRCh38
NC_000001.10:g.158582804_158582805insATATATTACCAAAGAAGA , CM000663.1:g.158582804_158582805insATATATTACCAAAGAAGA	GRCh37
NC_000001.9:g.156849428_156849429insATATATTACCAAAGAAGA	NCBI36
NG_011474.1:g.78702_78703insTCTTCTTTGGTAATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.6990-54_6990-53insTCTTCTTTGGTAATATAT MANE Select	ENSP00000495214.1:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
ENST00000368147.8:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	ENSP00000357129.4:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
ENST00000481212.5:n.431-54_431-53insTCTTCTTTGGTAATATAT
ENST00000498708.1:n.422-54_422-53insTCTTCTTTGGTAATATAT
ENST00000614909.4:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	ENSP00000482595.1:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
NM_003126.2:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	NP_003117.2:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
XM_011509916.1:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	XP_011508218.1:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
XM_011509917.1:c.6972-54_6972-53insTCTTCTTTGGTAATATAT	XP_011508219.1:n.6972-54_6972-53insTCTTCTTTGGTAATATAT
NM_003126.3:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	NP_003117.2:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
XM_011509916.2:c.6990-54_6990-53insTCTTCTTTGGTAATATAT	XP_011508218.1:n.6990-54_6990-53insTCTTCTTTGGTAATATAT
XM_011509917.3:c.6972-54_6972-53insTCTTCTTTGGTAATATAT	XP_011508219.1:n.6972-54_6972-53insTCTTCTTTGGTAATATAT
NM_003126.4:c.6990-54_6990-53insTCTTCTTTGGTAATATAT MANE Select	NP_003117.2:n.6990-54_6990-53insTCTTCTTTGGTAATATAT