Canonical Allele Identifier: CA2778326535
Gene: CNTNAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147128923_147128924del , CM000669.2:g.147128923_147128924del GRCh38
NC_000007.13:g.146826015_146826016del , CM000669.1:g.146826015_146826016del GRCh37
NC_000007.12:g.146456948_146456949del NCBI36
NG_007092.2:g.1017563_1017564del
NG_007092.3:g.1017923_1017924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1083+87_1083+88del MANE Select ENSP00000354778.3:n.1083+87_1083+88del
ENST00000636561.1:n.986+87_986+88del
ENST00000636870.1:n.945+87_945+88del
ENST00000637150.1:n.1012+87_1012+88del
ENST00000637694.1:n.986+87_986+88del
ENST00000637825.1:n.566+87_566+88del
ENST00000638117.1:n.986+87_986+88del
ENST00000361727.7:c.1083+87_1083+88del ENSP00000354778.3:n.1083+87_1083+88del
NM_014141.5:c.1083+87_1083+88del NP_054860.1:n.1083+87_1083+88del
XM_017011950.2:c.1083+87_1083+88del XP_016867439.1:n.1083+87_1083+88del
NM_014141.6:c.1083+87_1083+88del MANE Select NP_054860.1:n.1083+87_1083+88del