Canonical Allele Identifier: CA889965561

Gene: SPTA1

Linked Data

• dbSNP Id: rs1355895396
• gnomAD v4: 1-158612693-GA-G
• MyVariant Identifiers: chr1:g.158582484del (hg19) ; chr1:g.158612694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612696del , CM000663.2:g.158612696del	GRCh38
NC_000001.10:g.158582486del , CM000663.1:g.158582486del	GRCh37
NC_000001.9:g.156849110del	NCBI36
NG_011474.1:g.79023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+123del MANE Select	ENSP00000495214.1:n.7134+123del
ENST00000368147.8:c.7134+123del	ENSP00000357129.4:n.7134+123del
ENST00000614909.4:c.7134+123del	ENSP00000482595.1:n.7134+123del
NM_003126.2:c.7134+123del	NP_003117.2:n.7134+123del
XM_011509916.1:c.7134+123del	XP_011508218.1:n.7134+123del
XM_011509917.1:c.7116+123del	XP_011508219.1:n.7116+123del
NM_003126.3:c.7134+123del	NP_003117.2:n.7134+123del
XM_011509916.2:c.7134+123del	XP_011508218.1:n.7134+123del
XM_011509917.3:c.7116+123del	XP_011508219.1:n.7116+123del
NM_003126.4:c.7134+123del MANE Select	NP_003117.2:n.7134+123del