Canonical Allele Identifier: CA2746290234
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612601_158612621del , CM000663.2:g.158612601_158612621del GRCh38
NC_000001.10:g.158582391_158582411del , CM000663.1:g.158582391_158582411del GRCh37
NC_000001.9:g.156849015_156849035del NCBI36
NG_011474.1:g.79096_79116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.7134+196_7134+216del MANE Select ENSP00000495214.1:n.7134+196_7134+216del
ENST00000368147.8:c.7134+196_7134+216del ENSP00000357129.4:n.7134+196_7134+216del
ENST00000614909.4:c.7134+196_7134+216del ENSP00000482595.1:n.7134+196_7134+216del
NM_003126.2:c.7134+196_7134+216del NP_003117.2:n.7134+196_7134+216del
XM_011509916.1:c.7134+196_7134+216del XP_011508218.1:n.7134+196_7134+216del
XM_011509917.1:c.7116+196_7116+216del XP_011508219.1:n.7116+196_7116+216del
NM_003126.3:c.7134+196_7134+216del NP_003117.2:n.7134+196_7134+216del
XM_011509916.2:c.7134+196_7134+216del XP_011508218.1:n.7134+196_7134+216del
XM_011509917.3:c.7116+196_7116+216del XP_011508219.1:n.7116+196_7116+216del
NM_003126.4:c.7134+196_7134+216del MANE Select NP_003117.2:n.7134+196_7134+216del