Canonical Allele Identifier: CA2637974127
Gene: CNTNAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687395_42687396del , CM000679.2:g.42687395_42687396del GRCh38
NC_000017.10:g.40839413_40839414del , CM000679.1:g.40839413_40839414del GRCh37
NC_000017.9:g.38092939_38092940del NCBI36
NG_042091.1:g.9782_9783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1045-325_1045-324del MANE Select ENSP00000264638.3:n.1045-325_1045-324del
ENST00000264638.8:c.1045-325_1045-324del ENSP00000264638.3:n.1045-325_1045-324del
ENST00000586801.1:n.135_136del
ENST00000591662.1:c.1045-325_1045-324del ENSP00000466571.1:n.1045-325_1045-324del
NM_003632.2:c.1045-325_1045-324del NP_003623.1:n.1045-325_1045-324del
XM_005257748.3:c.817-325_817-324del XP_005257805.1:n.817-325_817-324del
XM_005257748.4:c.817-325_817-324del XP_005257805.1:n.817-325_817-324del
XM_017025238.1:c.1045-325_1045-324del XP_016880727.1:n.1045-325_1045-324del
XM_024451011.1:c.1045-325_1045-324del XP_024306779.1:n.1045-325_1045-324del
NM_003632.3:c.1045-325_1045-324del MANE Select NP_003623.1:n.1045-325_1045-324del