Canonical Allele Identifier: CA2746290244
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158612736_158612737insTTTTTTT , CM000663.2:g.158612736_158612737insTTTTTTT GRCh38
NC_000001.10:g.158582526_158582527insTTTTTTT , CM000663.1:g.158582526_158582527insTTTTTTT GRCh37
NC_000001.9:g.156849150_156849151insTTTTTTT NCBI36
NG_011474.1:g.78986_78987insAAAAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000643759.2:c.7134+86_7134+87insAAAAAAA MANE Select ENSP00000495214.1:n.7134+86_7134+87insAAAAAAA
ENST00000368147.8:c.7134+86_7134+87insAAAAAAA ENSP00000357129.4:n.7134+86_7134+87insAAAAAAA
ENST00000614909.4:c.7134+86_7134+87insAAAAAAA ENSP00000482595.1:n.7134+86_7134+87insAAAAAAA
NM_003126.2:c.7134+86_7134+87insAAAAAAA NP_003117.2:n.7134+86_7134+87insAAAAAAA
XM_011509916.1:c.7134+86_7134+87insAAAAAAA XP_011508218.1:n.7134+86_7134+87insAAAAAAA
XM_011509917.1:c.7116+86_7116+87insAAAAAAA XP_011508219.1:n.7116+86_7116+87insAAAAAAA
NM_003126.3:c.7134+86_7134+87insAAAAAAA NP_003117.2:n.7134+86_7134+87insAAAAAAA
XM_011509916.2:c.7134+86_7134+87insAAAAAAA XP_011508218.1:n.7134+86_7134+87insAAAAAAA
XM_011509917.3:c.7116+86_7116+87insAAAAAAA XP_011508219.1:n.7116+86_7116+87insAAAAAAA
NM_003126.4:c.7134+86_7134+87insAAAAAAA MANE Select NP_003117.2:n.7134+86_7134+87insAAAAAAA