Canonical Allele Identifier: CA1750436596

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778081_146778084delinsGAGA , CM000669.2:g.146778081_146778084delinsGAGA	GRCh38
NC_000007.13:g.146475173_146475176delinsGAGA , CM000669.1:g.146475173_146475176delinsGAGA	GRCh37
NC_000007.12:g.146106106_146106109delinsGAGA	NCBI36
NG_007092.2:g.666721_666724delinsGAGA
NG_007092.3:g.667081_667084delinsGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3700_208+3703delinsGAGA MANE Select	ENSP00000354778.3:n.208+3700_208+3703deli...
ENST00000636277.1:n.75+3700_75+3703delinsGAGA
ENST00000636561.1:n.111+3700_111+3703delinsGAGA
ENST00000636600.1:n.58+3700_58+3703delinsGAGA
ENST00000637150.1:n.137+3700_137+3703delinsGAGA
ENST00000637694.1:n.111+3700_111+3703delinsGAGA
ENST00000638117.1:n.111+3700_111+3703delinsGAGA
ENST00000361727.7:c.208+3700_208+3703delinsGAGA	ENSP00000354778.3:n.208+3700_208+3703deli...
ENST00000625365.2:c.208+3700_208+3703delinsGAGA	ENSP00000485955.1:n.208+3700_208+3703deli...
NM_014141.5:c.208+3700_208+3703delinsGAGA	NP_054860.1:n.208+3700_208+3703delinsGAGA...
XM_017011950.2:c.208+3700_208+3703delinsGAGA	XP_016867439.1:n.208+3700_208+3703delinsG...
NM_014141.6:c.208+3700_208+3703delinsGAGA MANE Select	NP_054860.1:n.208+3700_208+3703delinsGAGA...