Canonical Allele Identifier: CA1750443744
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792490_146792491insTTTCCA , CM000669.2:g.146792490_146792491insTTTCCA GRCh38
NC_000007.13:g.146489582_146489583insTTTCCA , CM000669.1:g.146489582_146489583insTTTCCA GRCh37
NC_000007.12:g.146120515_146120516insTTTCCA NCBI36
NG_007092.2:g.681130_681131insTTTCCA
NG_007092.3:g.681490_681491insTTTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+18109_208+18110insTTTCCA MANE Select ENSP00000354778.3:n.208+18109_208+18110insTTTCCA
ENST00000636561.1:n.111+18109_111+18110insTTTCCA
ENST00000637150.1:n.137+18109_137+18110insTTTCCA
ENST00000637694.1:n.111+18109_111+18110insTTTCCA
ENST00000638117.1:n.111+18109_111+18110insTTTCCA
ENST00000361727.7:c.208+18109_208+18110insTTTCCA ENSP00000354778.3:n.208+18109_208+18110insTTTCCA
ENST00000625365.2:c.208+18109_208+18110insTTTCCA ENSP00000485955.1:n.208+18109_208+18110insTTTCCA
NM_014141.5:c.208+18109_208+18110insTTTCCA NP_054860.1:n.208+18109_208+18110insTTTCCA
XM_017011950.2:c.208+18109_208+18110insTTTCCA XP_016867439.1:n.208+18109_208+18110insTTTCCA
NM_014141.6:c.208+18109_208+18110insTTTCCA MANE Select NP_054860.1:n.208+18109_208+18110insTTTCCA