Canonical Allele Identifier: CA1751005500
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147918590_147918591delinsAT , CM000669.2:g.147918590_147918591delinsAT GRCh38
NC_000007.13:g.147615682_147615683delinsAT , CM000669.1:g.147615682_147615683delinsAT GRCh37
NC_000007.12:g.147246615_147246616delinsAT NCBI36
NG_007092.2:g.1807230_1807231delinsAT
NG_007092.3:g.1807590_1807591delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2255+14869_2255+14870delinsAT MANE Select ENSP00000354778.3:n.2255+14869_2255+14870...
ENST00000636870.1:n.2117+14869_2117+14870delinsAT
ENST00000637825.1:n.1738+14869_1738+14870delinsAT
ENST00000361727.7:c.2255+14869_2255+14870delinsAT ENSP00000354778.3:n.2255+14869_2255+14870...
ENST00000455301.2:n.190+14869_190+14870delinsAT
ENST00000627772.2:n.428+14869_428+14870delinsAT
NM_014141.5:c.2255+14869_2255+14870delinsAT NP_054860.1:n.2255+14869_2255+14870delins...
XM_006715919.1:c.743+14869_743+14870delinsAT XP_006715982.1:n.743+14869_743+14870delin...
NM_014141.6:c.2255+14869_2255+14870delinsAT MANE Select NP_054860.1:n.2255+14869_2255+14870delins...
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