Canonical Allele Identifier: CA919843621
Gene: CNTNAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1597806296

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42688239_42688247del , CM000679.2:g.42688239_42688247del GRCh38
NC_000017.10:g.40840257_40840265del , CM000679.1:g.40840257_40840265del GRCh37
NC_000017.9:g.38093783_38093791del NCBI36
NG_042091.1:g.10626_10634del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1307-223_1307-215del MANE Select ENSP00000264638.3:n.1307-223_1307-215del
ENST00000264638.8:c.1307-223_1307-215del ENSP00000264638.3:n.1307-223_1307-215del
ENST00000586801.1:n.722-223_722-215del
ENST00000591662.1:c.1307-223_1307-215del ENSP00000466571.1:n.1307-223_1307-215del
NM_003632.2:c.1307-223_1307-215del NP_003623.1:n.1307-223_1307-215del
XM_005257748.3:c.1079-223_1079-215del XP_005257805.1:n.1079-223_1079-215del
XM_005257748.4:c.1079-223_1079-215del XP_005257805.1:n.1079-223_1079-215del
XM_017025238.1:c.1307-223_1307-215del XP_016880727.1:n.1307-223_1307-215del
XM_024451011.1:c.1307-223_1307-215del XP_024306779.1:n.1307-223_1307-215del
NM_003632.3:c.1307-223_1307-215del MANE Select NP_003623.1:n.1307-223_1307-215del