Canonical Allele Identifier: CA1201536974
Gene: SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158613005_158613006delinsGA , CM000663.2:g.158613005_158613006delinsGA GRCh38
NC_000001.10:g.158582795_158582796delinsGA , CM000663.1:g.158582795_158582796delinsGA GRCh37
NC_000001.9:g.156849419_156849420delinsGA NCBI36
NG_011474.1:g.78711_78712delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000643759.2:c.6990-45_6990-44delinsTC MANE Select ENSP00000495214.1:n.6990-45_6990-44delinsTC
ENST00000368147.8:c.6990-45_6990-44delinsTC ENSP00000357129.4:n.6990-45_6990-44delinsTC
ENST00000481212.5:n.431-45_431-44delinsTC
ENST00000498708.1:n.422-45_422-44delinsTC
ENST00000614909.4:c.6990-45_6990-44delinsTC ENSP00000482595.1:n.6990-45_6990-44delinsTC
NM_003126.2:c.6990-45_6990-44delinsTC NP_003117.2:n.6990-45_6990-44delinsTC
XM_011509916.1:c.6990-45_6990-44delinsTC XP_011508218.1:n.6990-45_6990-44delinsTC
XM_011509917.1:c.6972-45_6972-44delinsTC XP_011508219.1:n.6972-45_6972-44delinsTC
NM_003126.3:c.6990-45_6990-44delinsTC NP_003117.2:n.6990-45_6990-44delinsTC
XM_011509916.2:c.6990-45_6990-44delinsTC XP_011508218.1:n.6990-45_6990-44delinsTC
XM_011509917.3:c.6972-45_6972-44delinsTC XP_011508219.1:n.6972-45_6972-44delinsTC
NM_003126.4:c.6990-45_6990-44delinsTC MANE Select NP_003117.2:n.6990-45_6990-44delinsTC