Canonical Allele Identifier: CA2716253198
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2129098832
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146351696_146351697del , CM000669.2:g.146351696_146351697del GRCh38
NC_000007.13:g.146048788_146048789del , CM000669.1:g.146048788_146048789del GRCh37
NC_000007.12:g.145679721_145679722del NCBI36
NG_007092.2:g.240336_240337del
NG_007092.3:g.240696_240697del

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.97+234723_97+234724del MANE Select ENSP00000354778.3:n.97+234723_97+234724del
ENST00000637150.1:n.26+234723_26+234724del
ENST00000361727.7:c.97+234723_97+234724del ENSP00000354778.3:n.97+234723_97+234724del
ENST00000625365.2:c.97+234723_97+234724del ENSP00000485955.1:n.97+234723_97+234724del
NM_014141.5:c.97+234723_97+234724del NP_054860.1:n.97+234723_97+234724del
XM_017011950.2:c.97+234723_97+234724del XP_016867439.1:n.97+234723_97+234724del
NM_014141.6:c.97+234723_97+234724del MANE Select NP_054860.1:n.97+234723_97+234724del
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