Canonical Allele Identifier: CA1183587

Gene: SPTA1

Linked Data

• ClinVar Variation Id: 293026
• ClinVar RCV Id: RCV000292434 ; RCV000352036 ; RCV000393570 ; RCV001711868
• dbSNP Id: rs3039789
• ExAC: 1:158637865 GA / G
• gnomAD v2: 1-158637865-GA-G
• gnomAD v3: 1-158668075-GA-G
• gnomAD v4: 1-158668075-GA-G
• COSMIC: COSN1090593
• MyVariant Identifiers: chr1:g.158637869del (hg19) ; chr1:g.158637866del (hg19) ; chr1:g.158668079del (hg38) ; chr1:g.158668076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158668091del , CM000663.2:g.158668091del	GRCh38
NC_000001.10:g.158637881del , CM000663.1:g.158637881del	GRCh37
NC_000001.9:g.156904505del	NCBI36
NG_011474.1:g.23641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.1834-14del MANE Select	ENSP00000495214.1:n.1834-14del
ENST00000368147.8:c.1834-14del	ENSP00000357129.4:n.1834-14del
ENST00000614909.4:c.1834-14del	ENSP00000482595.1:n.1834-14del
NM_003126.2:c.1834-14del	NP_003117.2:n.1834-14del
XM_011509916.1:c.1834-14del	XP_011508218.1:n.1834-14del
XM_011509917.1:c.1834-14del	XP_011508219.1:n.1834-14del
XM_011509918.1:c.1834-14del	XP_011508220.1:n.1834-14del
XM_011509919.1:c.1834-14del	XP_011508221.1:n.1834-14del
XR_921911.1:n.1947-14del
XR_921912.1:n.1952-14del
NM_003126.3:c.1834-14del	NP_003117.2:n.1834-14del
XM_011509916.2:c.1834-14del	XP_011508218.1:n.1834-14del
XM_011509917.3:c.1834-14del	XP_011508219.1:n.1834-14del
XM_011509918.3:c.1834-14del	XP_011508220.1:n.1834-14del
XM_011509919.3:c.1834-14del	XP_011508221.1:n.1834-14del
XR_921911.3:n.1960-14del
XR_921912.2:n.1962-14del
NM_003126.4:c.1834-14del MANE Select	NP_003117.2:n.1834-14del