Canonical Allele Identifier: CA526546861

Gene: SPTA1

Linked Data

• dbSNP Id: rs1187082368
• gnomAD v2: 1-158582506-AAAC-A
• gnomAD v3: 1-158612716-AAAC-A
• gnomAD v4: 1-158612716-AAAC-A
• MyVariant Identifiers: chr1:g.158582507_158582509del (hg19) ; chr1:g.158612717_158612719del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612719_158612721del , CM000663.2:g.158612719_158612721del	GRCh38
NC_000001.10:g.158582509_158582511del , CM000663.1:g.158582509_158582511del	GRCh37
NC_000001.9:g.156849133_156849135del	NCBI36
NG_011474.1:g.78998_79000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643759.2:c.7134+98_7134+100del MANE Select	ENSP00000495214.1:n.7134+98_7134+100del
ENST00000368147.8:c.7134+98_7134+100del	ENSP00000357129.4:n.7134+98_7134+100del
ENST00000614909.4:c.7134+98_7134+100del	ENSP00000482595.1:n.7134+98_7134+100del
NM_003126.2:c.7134+98_7134+100del	NP_003117.2:n.7134+98_7134+100del
XM_011509916.1:c.7134+98_7134+100del	XP_011508218.1:n.7134+98_7134+100del
XM_011509917.1:c.7116+98_7116+100del	XP_011508219.1:n.7116+98_7116+100del
NM_003126.3:c.7134+98_7134+100del	NP_003117.2:n.7134+98_7134+100del
XM_011509916.2:c.7134+98_7134+100del	XP_011508218.1:n.7134+98_7134+100del
XM_011509917.3:c.7116+98_7116+100del	XP_011508219.1:n.7116+98_7116+100del
NM_003126.4:c.7134+98_7134+100del MANE Select	NP_003117.2:n.7134+98_7134+100del