Canonical Allele Identifier: CA2260598314
Gene: CNTNAP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687311C= , CM000679.2:g.42687311C= GRCh38
NC_000017.10:g.40839329C= , CM000679.1:g.40839329C= GRCh37
NC_000017.9:g.38092855C= NCBI36
NG_042091.1:g.9698C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1044+265C= MANE Select ENSP00000264638.3:n.1044+265C=
ENST00000264638.8:c.1044+265C= ENSP00000264638.3:n.1044+265C=
ENST00000586801.1:n.51C=
ENST00000591662.1:c.1044+265C= ENSP00000466571.1:n.1044+265C=
NM_003632.2:c.1044+265C= NP_003623.1:n.1044+265C=
XM_005257748.3:c.816+265C= XP_005257805.1:n.816+265C=
XM_005257748.4:c.816+265C= XP_005257805.1:n.816+265C=
XM_017025238.1:c.1044+265C= XP_016880727.1:n.1044+265C=
XM_024451011.1:c.1044+265C= XP_024306779.1:n.1044+265C=
NM_003632.3:c.1044+265C= MANE Select NP_003623.1:n.1044+265C=
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