Canonical Allele Identifier: CA1201536787

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612568_158612572delinsGAAAT , CM000663.2:g.158612568_158612572delinsGAAAT	GRCh38
NC_000001.10:g.158582358_158582362delinsGAAAT , CM000663.1:g.158582358_158582362delinsGAAAT	GRCh37
NC_000001.9:g.156848982_156848986delinsGAAAT	NCBI36
NG_011474.1:g.79145_79149delinsATTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+245_7134+249delinsATTTC MANE Select	ENSP00000495214.1:n.7134+245_7134+249delinsATTTC
ENST00000368147.8:c.7134+245_7134+249delinsATTTC	ENSP00000357129.4:n.7134+245_7134+249delinsATTTC
ENST00000614909.4:c.7134+245_7134+249delinsATTTC	ENSP00000482595.1:n.7134+245_7134+249delinsATTTC
NM_003126.2:c.7134+245_7134+249delinsATTTC	NP_003117.2:n.7134+245_7134+249delinsATTTC
XM_011509916.1:c.7134+245_7134+249delinsATTTC	XP_011508218.1:n.7134+245_7134+249delinsATTTC
XM_011509917.1:c.7116+245_7116+249delinsATTTC	XP_011508219.1:n.7116+245_7116+249delinsATTTC
NM_003126.3:c.7134+245_7134+249delinsATTTC	NP_003117.2:n.7134+245_7134+249delinsATTTC
XM_011509916.2:c.7134+245_7134+249delinsATTTC	XP_011508218.1:n.7134+245_7134+249delinsATTTC
XM_011509917.3:c.7116+245_7116+249delinsATTTC	XP_011508219.1:n.7116+245_7116+249delinsATTTC
NM_003126.4:c.7134+245_7134+249delinsATTTC MANE Select	NP_003117.2:n.7134+245_7134+249delinsATTTC