Canonical Allele Identifier: CA1181710

Gene: SPTA1

Linked Data

• dbSNP Id: rs776262158
• ExAC: 1:158582567 TAGGATGAC / T
• gnomAD v2: 1-158582567-TAGGATGAC-T
• gnomAD v4: 1-158612777-TAGGATGAC-T
• MyVariant Identifiers: chr1:g.158582568_158582575del (hg19) ; chr1:g.158612778_158612785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612780_158612787del , CM000663.2:g.158612780_158612787del	GRCh38
NC_000001.10:g.158582570_158582577del , CM000663.1:g.158582570_158582577del	GRCh37
NC_000001.9:g.156849194_156849201del	NCBI36
NG_011474.1:g.78932_78939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+32_7134+39del MANE Select	ENSP00000495214.1:n.7134+32_7134+39del
ENST00000368147.8:c.7134+32_7134+39del	ENSP00000357129.4:n.7134+32_7134+39del
ENST00000481212.5:n.607_614del
ENST00000614909.4:c.7134+32_7134+39del	ENSP00000482595.1:n.7134+32_7134+39del
NM_003126.2:c.7134+32_7134+39del	NP_003117.2:n.7134+32_7134+39del
XM_011509916.1:c.7134+32_7134+39del	XP_011508218.1:n.7134+32_7134+39del
XM_011509917.1:c.7116+32_7116+39del	XP_011508219.1:n.7116+32_7116+39del
NM_003126.3:c.7134+32_7134+39del	NP_003117.2:n.7134+32_7134+39del
XM_011509916.2:c.7134+32_7134+39del	XP_011508218.1:n.7134+32_7134+39del
XM_011509917.3:c.7116+32_7116+39del	XP_011508219.1:n.7116+32_7116+39del
NM_003126.4:c.7134+32_7134+39del MANE Select	NP_003117.2:n.7134+32_7134+39del