Canonical Allele Identifier: CA2746290248
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612738_158612746del , CM000663.2:g.158612738_158612746del GRCh38
NC_000001.10:g.158582528_158582536del , CM000663.1:g.158582528_158582536del GRCh37
NC_000001.9:g.156849152_156849160del NCBI36
NG_011474.1:g.78972_78980del

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+72_7134+80del MANE Select ENSP00000495214.1:n.7134+72_7134+80del
ENST00000368147.8:c.7134+72_7134+80del ENSP00000357129.4:n.7134+72_7134+80del
ENST00000614909.4:c.7134+72_7134+80del ENSP00000482595.1:n.7134+72_7134+80del
NM_003126.2:c.7134+72_7134+80del NP_003117.2:n.7134+72_7134+80del
XM_011509916.1:c.7134+72_7134+80del XP_011508218.1:n.7134+72_7134+80del
XM_011509917.1:c.7116+72_7116+80del XP_011508219.1:n.7116+72_7116+80del
NM_003126.3:c.7134+72_7134+80del NP_003117.2:n.7134+72_7134+80del
XM_011509916.2:c.7134+72_7134+80del XP_011508218.1:n.7134+72_7134+80del
XM_011509917.3:c.7116+72_7116+80del XP_011508219.1:n.7116+72_7116+80del
NM_003126.4:c.7134+72_7134+80del MANE Select NP_003117.2:n.7134+72_7134+80del