Canonical Allele Identifier: CA2648555583

Gene: SPTA1

Linked Data

• gnomAD v4: 1-158612716-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612716_158612717insG , CM000663.2:g.158612716_158612717insG	GRCh38
NC_000001.10:g.158582506_158582507insG , CM000663.1:g.158582506_158582507insG	GRCh37
NC_000001.9:g.156849130_156849131insG	NCBI36
NG_011474.1:g.79000_79001insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643759.2:c.7134+100_7134+101insC MANE Select	ENSP00000495214.1:n.7134+100_7134+101insC
ENST00000368147.8:c.7134+100_7134+101insC	ENSP00000357129.4:n.7134+100_7134+101insC
ENST00000614909.4:c.7134+100_7134+101insC	ENSP00000482595.1:n.7134+100_7134+101insC
NM_003126.2:c.7134+100_7134+101insC	NP_003117.2:n.7134+100_7134+101insC
XM_011509916.1:c.7134+100_7134+101insC	XP_011508218.1:n.7134+100_7134+101insC
XM_011509917.1:c.7116+100_7116+101insC	XP_011508219.1:n.7116+100_7116+101insC
NM_003126.3:c.7134+100_7134+101insC	NP_003117.2:n.7134+100_7134+101insC
XM_011509916.2:c.7134+100_7134+101insC	XP_011508218.1:n.7134+100_7134+101insC
XM_011509917.3:c.7116+100_7116+101insC	XP_011508219.1:n.7116+100_7116+101insC
NM_003126.4:c.7134+100_7134+101insC MANE Select	NP_003117.2:n.7134+100_7134+101insC