Canonical Allele Identifier: CA31250377

Gene: SPTA1

Linked Data

• dbSNP Id: rs780305714
• MyVariant Identifiers: chr1:g.158582397_158582398del (hg19) ; chr1:g.158612607_158612608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612610_158612611del , CM000663.2:g.158612610_158612611del	GRCh38
NC_000001.10:g.158582400_158582401del , CM000663.1:g.158582400_158582401del	GRCh37
NC_000001.9:g.156849024_156849025del	NCBI36
NG_011474.1:g.79109_79110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+209_7134+210del MANE Select	ENSP00000495214.1:n.7134+209_7134+210del
ENST00000368147.8:c.7134+209_7134+210del	ENSP00000357129.4:n.7134+209_7134+210del
ENST00000614909.4:c.7134+209_7134+210del	ENSP00000482595.1:n.7134+209_7134+210del
NM_003126.2:c.7134+209_7134+210del	NP_003117.2:n.7134+209_7134+210del
XM_011509916.1:c.7134+209_7134+210del	XP_011508218.1:n.7134+209_7134+210del
XM_011509917.1:c.7116+209_7116+210del	XP_011508219.1:n.7116+209_7116+210del
NM_003126.3:c.7134+209_7134+210del	NP_003117.2:n.7134+209_7134+210del
XM_011509916.2:c.7134+209_7134+210del	XP_011508218.1:n.7134+209_7134+210del
XM_011509917.3:c.7116+209_7116+210del	XP_011508219.1:n.7116+209_7116+210del
NM_003126.4:c.7134+209_7134+210del MANE Select	NP_003117.2:n.7134+209_7134+210del