Canonical Allele Identifier: CA889966882

Gene: SPTA1

Linked Data

• dbSNP Id: rs1229117523
• gnomAD v3: 1-158685205-TGTAA-T
• gnomAD v4: 1-158685205-TGTAA-T
• MyVariant Identifiers: chr1:g.158654996_158654999del (hg19) ; chr1:g.158685206_158685209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158685208_158685211del , CM000663.2:g.158685208_158685211del	GRCh38
NC_000001.10:g.158654998_158655001del , CM000663.1:g.158654998_158655001del	GRCh37
NC_000001.9:g.156921622_156921625del	NCBI36
NG_011474.1:g.6508_6511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.163_166del MANE Select	ENSP00000495214.1:p.Leu55LysfsTer21
ENST00000368147.8:c.163_166del	ENSP00000357129.4:p.Leu55LysfsTer21
ENST00000467387.1:c.132+31_132+34del	ENSP00000476485.1:n.132+31_132+34del
ENST00000614909.4:c.163_166del	ENSP00000482595.1:p.Leu55LysfsTer21
NM_003126.2:c.163_166del	NP_003117.2:p.Leu55LysfsTer21
XM_011509916.1:c.163_166del	XP_011508218.1:p.Leu55LysfsTer21
XM_011509917.1:c.163_166del	XP_011508219.1:p.Leu55LysfsTer21
XM_011509918.1:c.163_166del	XP_011508220.1:p.Leu55LysfsTer21
XM_011509919.1:c.163_166del	XP_011508221.1:p.Leu55LysfsTer21
XR_921911.1:n.276_279del
XR_921912.1:n.281_284del
NM_003126.3:c.163_166del	NP_003117.2:p.Leu55LysfsTer21
XM_011509916.2:c.163_166del	XP_011508218.1:p.Leu55LysfsTer21
XM_011509917.3:c.163_166del	XP_011508219.1:p.Leu55LysfsTer21
XM_011509918.3:c.163_166del	XP_011508220.1:p.Leu55LysfsTer21
XM_011509919.3:c.163_166del	XP_011508221.1:p.Leu55LysfsTer21
XR_921911.3:n.289_292del
XR_921912.2:n.291_294del
NM_003126.4:c.163_166del MANE Select	NP_003117.2:p.Leu55LysfsTer21