Canonical Allele Identifier: CA2260598468
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687656_42687658delinsCTG , CM000679.2:g.42687656_42687658delinsCTG GRCh38
NC_000017.10:g.40839674_40839676delinsCTG , CM000679.1:g.40839674_40839676delinsCTG GRCh37
NC_000017.9:g.38093200_38093202delinsCTG NCBI36
NG_042091.1:g.10043_10045delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1045-64_1045-62delinsCTG MANE Select ENSP00000264638.3:n.1045-64_1045-62delinsCTG
ENST00000264638.8:c.1045-64_1045-62delinsCTG ENSP00000264638.3:n.1045-64_1045-62delinsCTG
ENST00000586801.1:n.396_398delinsCTG
ENST00000591662.1:c.1045-64_1045-62delinsCTG ENSP00000466571.1:n.1045-64_1045-62delinsCTG
NM_003632.2:c.1045-64_1045-62delinsCTG NP_003623.1:n.1045-64_1045-62delinsCTG
XM_005257748.3:c.817-64_817-62delinsCTG XP_005257805.1:n.817-64_817-62delinsCTG
XM_005257748.4:c.817-64_817-62delinsCTG XP_005257805.1:n.817-64_817-62delinsCTG
XM_017025238.1:c.1045-64_1045-62delinsCTG XP_016880727.1:n.1045-64_1045-62delinsCTG
XM_024451011.1:c.1045-64_1045-62delinsCTG XP_024306779.1:n.1045-64_1045-62delinsCTG
NM_003632.3:c.1045-64_1045-62delinsCTG MANE Select NP_003623.1:n.1045-64_1045-62delinsCTG