Canonical Allele Identifier: CA1750443773

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792544_146792545delinsGA , CM000669.2:g.146792544_146792545delinsGA	GRCh38
NC_000007.13:g.146489636_146489637delinsGA , CM000669.1:g.146489636_146489637delinsGA	GRCh37
NC_000007.12:g.146120569_146120570delinsGA	NCBI36
NG_007092.2:g.681184_681185delinsGA
NG_007092.3:g.681544_681545delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18163_208+18164delinsGA MANE Select	ENSP00000354778.3:n.208+18163_208+18164de...
ENST00000636561.1:n.111+18163_111+18164delinsGA
ENST00000637150.1:n.137+18163_137+18164delinsGA
ENST00000637694.1:n.111+18163_111+18164delinsGA
ENST00000638117.1:n.111+18163_111+18164delinsGA
ENST00000361727.7:c.208+18163_208+18164delinsGA	ENSP00000354778.3:n.208+18163_208+18164de...
ENST00000625365.2:c.208+18163_208+18164delinsGA	ENSP00000485955.1:n.208+18163_208+18164de...
NM_014141.5:c.208+18163_208+18164delinsGA	NP_054860.1:n.208+18163_208+18164delinsGA...
XM_017011950.2:c.208+18163_208+18164delinsGA	XP_016867439.1:n.208+18163_208+18164delin...
NM_014141.6:c.208+18163_208+18164delinsGA MANE Select	NP_054860.1:n.208+18163_208+18164delinsGA...