Canonical Allele Identifier: CA2746290246

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612736_158612737insTTTTTTTTTC , CM000663.2:g.158612736_158612737insTTTTTTTTTC	GRCh38
NC_000001.10:g.158582526_158582527insTTTTTTTTTC , CM000663.1:g.158582526_158582527insTTTTTTTTTC	GRCh37
NC_000001.9:g.156849150_156849151insTTTTTTTTTC	NCBI36
NG_011474.1:g.78980_78981insGAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+80_7134+81insGAAAAAAAAA MANE Select	ENSP00000495214.1:n.7134+80_7134+81insGAAAAAAAAA
ENST00000368147.8:c.7134+80_7134+81insGAAAAAAAAA	ENSP00000357129.4:n.7134+80_7134+81insGAAAAAAAAA
ENST00000614909.4:c.7134+80_7134+81insGAAAAAAAAA	ENSP00000482595.1:n.7134+80_7134+81insGAAAAAAAAA
NM_003126.2:c.7134+80_7134+81insGAAAAAAAAA	NP_003117.2:n.7134+80_7134+81insGAAAAAAAAA
XM_011509916.1:c.7134+80_7134+81insGAAAAAAAAA	XP_011508218.1:n.7134+80_7134+81insGAAAAAAAAA
XM_011509917.1:c.7116+80_7116+81insGAAAAAAAAA	XP_011508219.1:n.7116+80_7116+81insGAAAAAAAAA
NM_003126.3:c.7134+80_7134+81insGAAAAAAAAA	NP_003117.2:n.7134+80_7134+81insGAAAAAAAAA
XM_011509916.2:c.7134+80_7134+81insGAAAAAAAAA	XP_011508218.1:n.7134+80_7134+81insGAAAAAAAAA
XM_011509917.3:c.7116+80_7116+81insGAAAAAAAAA	XP_011508219.1:n.7116+80_7116+81insGAAAAAAAAA
NM_003126.4:c.7134+80_7134+81insGAAAAAAAAA MANE Select	NP_003117.2:n.7134+80_7134+81insGAAAAAAAAA