Canonical Allele Identifier: CA2260598743
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42688238_42688247delinsAGATTTGGTT , CM000679.2:g.42688238_42688247delinsAGATTTGGTT GRCh38
NC_000017.10:g.40840256_40840265delinsAGATTTGGTT , CM000679.1:g.40840256_40840265delinsAGATTTGGTT GRCh37
NC_000017.9:g.38093782_38093791delinsAGATTTGGTT NCBI36
NG_042091.1:g.10625_10634delinsAGATTTGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1307-224_1307-215delinsAGATTTGGTT MANE Select ENSP00000264638.3:n.1307-224_1307-215delinsAGATTTGGTT
ENST00000264638.8:c.1307-224_1307-215delinsAGATTTGGTT ENSP00000264638.3:n.1307-224_1307-215delinsAGATTTGGTT
ENST00000586801.1:n.722-224_722-215delinsAGATTTGGTT
ENST00000591662.1:c.1307-224_1307-215delinsAGATTTGGTT ENSP00000466571.1:n.1307-224_1307-215delinsAGATTTGGTT
NM_003632.2:c.1307-224_1307-215delinsAGATTTGGTT NP_003623.1:n.1307-224_1307-215delinsAGATTTGGTT
XM_005257748.3:c.1079-224_1079-215delinsAGATTTGGTT XP_005257805.1:n.1079-224_1079-215delinsAGATTTGGTT
XM_005257748.4:c.1079-224_1079-215delinsAGATTTGGTT XP_005257805.1:n.1079-224_1079-215delinsAGATTTGGTT
XM_017025238.1:c.1307-224_1307-215delinsAGATTTGGTT XP_016880727.1:n.1307-224_1307-215delinsAGATTTGGTT
XM_024451011.1:c.1307-224_1307-215delinsAGATTTGGTT XP_024306779.1:n.1307-224_1307-215delinsAGATTTGGTT
NM_003632.3:c.1307-224_1307-215delinsAGATTTGGTT MANE Select NP_003623.1:n.1307-224_1307-215delinsAGATTTGGTT