Canonical Allele Identifier: CA1750436666

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778237_146778240delinsAAAG , CM000669.2:g.146778237_146778240delinsAAAG	GRCh38
NC_000007.13:g.146475329_146475332delinsAAAG , CM000669.1:g.146475329_146475332delinsAAAG	GRCh37
NC_000007.12:g.146106262_146106265delinsAAAG	NCBI36
NG_007092.2:g.666877_666880delinsAAAG
NG_007092.3:g.667237_667240delinsAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3856_208+3859delinsAAAG MANE Select	ENSP00000354778.3:n.208+3856_208+3859deli...
ENST00000636277.1:n.75+3856_75+3859delinsAAAG
ENST00000636561.1:n.111+3856_111+3859delinsAAAG
ENST00000636600.1:n.58+3856_58+3859delinsAAAG
ENST00000637150.1:n.137+3856_137+3859delinsAAAG
ENST00000637694.1:n.111+3856_111+3859delinsAAAG
ENST00000638117.1:n.111+3856_111+3859delinsAAAG
ENST00000361727.7:c.208+3856_208+3859delinsAAAG	ENSP00000354778.3:n.208+3856_208+3859deli...
ENST00000625365.2:c.208+3856_208+3859delinsAAAG	ENSP00000485955.1:n.208+3856_208+3859deli...
NM_014141.5:c.208+3856_208+3859delinsAAAG	NP_054860.1:n.208+3856_208+3859delinsAAAG...
XM_017011950.2:c.208+3856_208+3859delinsAAAG	XP_016867439.1:n.208+3856_208+3859delinsA...
NM_014141.6:c.208+3856_208+3859delinsAAAG MANE Select	NP_054860.1:n.208+3856_208+3859delinsAAAG...