Canonical Allele Identifier: CA2648555416

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612595-ATTTTGAATTGACTCTCACATTCAATAGAGTACCACAGTACGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612602_158612643del , CM000663.2:g.158612602_158612643del	GRCh38
NC_000001.10:g.158582392_158582433del , CM000663.1:g.158582392_158582433del	GRCh37
NC_000001.9:g.156849016_156849057del	NCBI36
NG_011474.1:g.79080_79121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+180_7134+221del MANE Select	ENSP00000495214.1:n.7134+180_7134+221del
ENST00000368147.8:c.7134+180_7134+221del	ENSP00000357129.4:n.7134+180_7134+221del
ENST00000614909.4:c.7134+180_7134+221del	ENSP00000482595.1:n.7134+180_7134+221del
NM_003126.2:c.7134+180_7134+221del	NP_003117.2:n.7134+180_7134+221del
XM_011509916.1:c.7134+180_7134+221del	XP_011508218.1:n.7134+180_7134+221del
XM_011509917.1:c.7116+180_7116+221del	XP_011508219.1:n.7116+180_7116+221del
NM_003126.3:c.7134+180_7134+221del	NP_003117.2:n.7134+180_7134+221del
XM_011509916.2:c.7134+180_7134+221del	XP_011508218.1:n.7134+180_7134+221del
XM_011509917.3:c.7116+180_7116+221del	XP_011508219.1:n.7116+180_7116+221del
NM_003126.4:c.7134+180_7134+221del MANE Select	NP_003117.2:n.7134+180_7134+221del