Canonical Allele Identifier: CA2809529703
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42688213_42688226dup , CM000679.2:g.42688213_42688226dup GRCh38
NC_000017.10:g.40840231_40840244dup , CM000679.1:g.40840231_40840244dup GRCh37
NC_000017.9:g.38093757_38093770dup NCBI36
NG_042091.1:g.10600_10613dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1306+232_1307-236dup MANE Select ENSP00000264638.3:n.1306+232_1307-236dup
ENST00000264638.8:c.1306+232_1307-236dup ENSP00000264638.3:n.1306+232_1307-236dup
ENST00000586801.1:n.721+232_722-236dup
ENST00000591662.1:c.1306+232_1307-236dup ENSP00000466571.1:n.1306+232_1307-236dup
NM_003632.2:c.1306+232_1307-236dup NP_003623.1:n.1306+232_1307-236dup
XM_005257748.3:c.1078+232_1079-236dup XP_005257805.1:n.1078+232_1079-236dup
XM_005257748.4:c.1078+232_1079-236dup XP_005257805.1:n.1078+232_1079-236dup
XM_017025238.1:c.1306+232_1307-236dup XP_016880727.1:n.1306+232_1307-236dup
XM_024451011.1:c.1306+232_1307-236dup XP_024306779.1:n.1306+232_1307-236dup
NM_003632.3:c.1306+232_1307-236dup MANE Select NP_003623.1:n.1306+232_1307-236dup