Canonical Allele Identifier: CA2260598379
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687462_42687464delinsGGA , CM000679.2:g.42687462_42687464delinsGGA GRCh38
NC_000017.10:g.40839480_40839482delinsGGA , CM000679.1:g.40839480_40839482delinsGGA GRCh37
NC_000017.9:g.38093006_38093008delinsGGA NCBI36
NG_042091.1:g.9849_9851delinsGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1045-258_1045-256delinsGGA MANE Select ENSP00000264638.3:n.1045-258_1045-256delinsGGA
ENST00000264638.8:c.1045-258_1045-256delinsGGA ENSP00000264638.3:n.1045-258_1045-256delinsGGA
ENST00000586801.1:n.202_204delinsGGA
ENST00000591662.1:c.1045-258_1045-256delinsGGA ENSP00000466571.1:n.1045-258_1045-256delinsGGA
NM_003632.2:c.1045-258_1045-256delinsGGA NP_003623.1:n.1045-258_1045-256delinsGGA
XM_005257748.3:c.817-258_817-256delinsGGA XP_005257805.1:n.817-258_817-256delinsGGA
XM_005257748.4:c.817-258_817-256delinsGGA XP_005257805.1:n.817-258_817-256delinsGGA
XM_017025238.1:c.1045-258_1045-256delinsGGA XP_016880727.1:n.1045-258_1045-256delinsGGA
XM_024451011.1:c.1045-258_1045-256delinsGGA XP_024306779.1:n.1045-258_1045-256delinsGGA
NM_003632.3:c.1045-258_1045-256delinsGGA MANE Select NP_003623.1:n.1045-258_1045-256delinsGGA