Canonical Allele Identifier: CA1008228940

Gene: SPTA1

Linked Data

• gnomAD v3: 1-158612555-AGG-A
• gnomAD v4: 1-158612555-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612556_158612557del , CM000663.2:g.158612556_158612557del	GRCh38
NC_000001.10:g.158582346_158582347del , CM000663.1:g.158582346_158582347del	GRCh37
NC_000001.9:g.156848970_156848971del	NCBI36
NG_011474.1:g.79160_79161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+260_7134+261del MANE Select	ENSP00000495214.1:n.7134+260_7134+261del
ENST00000368147.8:c.7134+260_7134+261del	ENSP00000357129.4:n.7134+260_7134+261del
ENST00000614909.4:c.7134+260_7134+261del	ENSP00000482595.1:n.7134+260_7134+261del
NM_003126.2:c.7134+260_7134+261del	NP_003117.2:n.7134+260_7134+261del
XM_011509916.1:c.7134+260_7134+261del	XP_011508218.1:n.7134+260_7134+261del
XM_011509917.1:c.7116+260_7116+261del	XP_011508219.1:n.7116+260_7116+261del
NM_003126.3:c.7134+260_7134+261del	NP_003117.2:n.7134+260_7134+261del
XM_011509916.2:c.7134+260_7134+261del	XP_011508218.1:n.7134+260_7134+261del
XM_011509917.3:c.7116+260_7116+261del	XP_011508219.1:n.7116+260_7116+261del
NM_003126.4:c.7134+260_7134+261del MANE Select	NP_003117.2:n.7134+260_7134+261del