Canonical Allele Identifier: CA2648555570

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612705-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612706dup , CM000663.2:g.158612706dup	GRCh38
NC_000001.10:g.158582496dup , CM000663.1:g.158582496dup	GRCh37
NC_000001.9:g.156849120dup	NCBI36
NG_011474.1:g.79011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+111dup MANE Select	ENSP00000495214.1:n.7134+111dup
ENST00000368147.8:c.7134+111dup	ENSP00000357129.4:n.7134+111dup
ENST00000614909.4:c.7134+111dup	ENSP00000482595.1:n.7134+111dup
NM_003126.2:c.7134+111dup	NP_003117.2:n.7134+111dup
XM_011509916.1:c.7134+111dup	XP_011508218.1:n.7134+111dup
XM_011509917.1:c.7116+111dup	XP_011508219.1:n.7116+111dup
NM_003126.3:c.7134+111dup	NP_003117.2:n.7134+111dup
XM_011509916.2:c.7134+111dup	XP_011508218.1:n.7134+111dup
XM_011509917.3:c.7116+111dup	XP_011508219.1:n.7116+111dup
NM_003126.4:c.7134+111dup MANE Select	NP_003117.2:n.7134+111dup