Canonical Allele Identifier: CA1750987899
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799446757

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147877731_147877732insGGGGG , CM000669.2:g.147877731_147877732insGGGGG GRCh38
NC_000007.13:g.147574823_147574824insGGGGG , CM000669.1:g.147574823_147574824insGGGGG GRCh37
NC_000007.12:g.147205756_147205757insGGGGG NCBI36
NG_007092.2:g.1766371_1766372insGGGGG
NG_007092.3:g.1766731_1766732insGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.2099-25834_2099-25833insGGGGG MANE Select ENSP00000354778.3:n.2099-25834_2099-25833insGGGGG
ENST00000636870.1:n.1961-25834_1961-25833insGGGGG
ENST00000637825.1:n.1582-25834_1582-25833insGGGGG
ENST00000361727.7:c.2099-25834_2099-25833insGGGGG ENSP00000354778.3:n.2099-25834_2099-25833insGGGGG
ENST00000455301.2:n.34-25834_34-25833insGGGGG
ENST00000627772.2:n.272-25834_272-25833insGGGGG
NM_014141.5:c.2099-25834_2099-25833insGGGGG NP_054860.1:n.2099-25834_2099-25833insGGGGG
XM_006715919.1:c.587-25834_587-25833insGGGGG XP_006715982.1:n.587-25834_587-25833insGGGGG
NM_014141.6:c.2099-25834_2099-25833insGGGGG MANE Select NP_054860.1:n.2099-25834_2099-25833insGGGGG