Canonical Allele Identifier: CA3050947626

Gene: SPTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158612847_158612856delinsATTGCCCTCC , CM000663.2:g.158612847_158612856delinsATTGCCCTCC	GRCh38
NC_000001.10:g.158582637_158582646delinsATTGCCCTCC , CM000663.1:g.158582637_158582646delinsATTGCCCTCC	GRCh37
NC_000001.9:g.156849261_156849270delinsATTGCCCTCC	NCBI36
NG_011474.1:g.78861_78870delinsGGAGGGCAAT

Transcript Alleles

HGVS	Amino-acid Change
NM_003126.4:c.7095_7104delinsGGAGGGCAAT MANE Select	NP_003117.2:p.Lys2368Asn
ENST00000643759.2:c.7095_7104delinsGGAGGGCAAT MANE Select	ENSP00000495214.1:p.Lys2368Asn
NM_003126.2:c.7095_7104delinsGGAGGGCAAT	NP_003117.2:p.Lys2368Asn
NM_003126.3:c.7095_7104delinsGGAGGGCAAT	NP_003117.2:p.Lys2368Asn
ENST00000368147.8:c.7095_7104delinsGGAGGGCAAT	ENSP00000357129.4:p.Lys2368Asn
ENST00000481212.5:n.536_545delinsGGAGGGCAAT
ENST00000498708.1:n.527_536delinsGGAGGGCAAT
ENST00000614909.4:c.7095_7104delinsGGAGGGCAAT	ENSP00000482595.1:p.Lys2368Asn
XM_011509916.1:c.7095_7104delinsGGAGGGCAAT	XP_011508218.1:p.Lys2368Asn
XM_011509916.2:c.7095_7104delinsGGAGGGCAAT	XP_011508218.1:p.Lys2368Asn
XM_011509917.1:c.7077_7086delinsGGAGGGCAAT	XP_011508219.1:p.Lys2362Asn
XM_011509917.3:c.7077_7086delinsGGAGGGCAAT	XP_011508219.1:p.Lys2362Asn