Canonical Allele Identifier: CA1201536891
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612777_158612785delinsTAGGATGAC , CM000663.2:g.158612777_158612785delinsTAGGATGAC GRCh38
NC_000001.10:g.158582567_158582575delinsTAGGATGAC , CM000663.1:g.158582567_158582575delinsTAGGATGAC GRCh37
NC_000001.9:g.156849191_156849199delinsTAGGATGAC NCBI36
NG_011474.1:g.78932_78940delinsGTCATCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7134+32_7134+40delinsGTCATCCTA MANE Select ENSP00000495214.1:n.7134+32_7134+40delinsGTCATCCTA
ENST00000368147.8:c.7134+32_7134+40delinsGTCATCCTA ENSP00000357129.4:n.7134+32_7134+40delinsGTCATCCTA
ENST00000481212.5:n.607_615delinsGTCATCCTA
ENST00000614909.4:c.7134+32_7134+40delinsGTCATCCTA ENSP00000482595.1:n.7134+32_7134+40delinsGTCATCCTA
NM_003126.2:c.7134+32_7134+40delinsGTCATCCTA NP_003117.2:n.7134+32_7134+40delinsGTCATCCTA
XM_011509916.1:c.7134+32_7134+40delinsGTCATCCTA XP_011508218.1:n.7134+32_7134+40delinsGTCATCCTA
XM_011509917.1:c.7116+32_7116+40delinsGTCATCCTA XP_011508219.1:n.7116+32_7116+40delinsGTCATCCTA
NM_003126.3:c.7134+32_7134+40delinsGTCATCCTA NP_003117.2:n.7134+32_7134+40delinsGTCATCCTA
XM_011509916.2:c.7134+32_7134+40delinsGTCATCCTA XP_011508218.1:n.7134+32_7134+40delinsGTCATCCTA
XM_011509917.3:c.7116+32_7116+40delinsGTCATCCTA XP_011508219.1:n.7116+32_7116+40delinsGTCATCCTA
NM_003126.4:c.7134+32_7134+40delinsGTCATCCTA MANE Select NP_003117.2:n.7134+32_7134+40delinsGTCATCCTA