Canonical Allele Identifier: CA834786701

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1216259799
• MyVariant Identifiers: chr7:g.146489637del (hg19) ; chr7:g.146792545del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792547del , CM000669.2:g.146792547del	GRCh38
NC_000007.13:g.146489639del , CM000669.1:g.146489639del	GRCh37
NC_000007.12:g.146120572del	NCBI36
NG_007092.2:g.681187del
NG_007092.3:g.681547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18166del MANE Select	ENSP00000354778.3:n.208+18166del
ENST00000636561.1:n.111+18166del
ENST00000637150.1:n.137+18166del
ENST00000637694.1:n.111+18166del
ENST00000638117.1:n.111+18166del
ENST00000361727.7:c.208+18166del	ENSP00000354778.3:n.208+18166del
ENST00000625365.2:c.208+18166del	ENSP00000485955.1:n.208+18166del
NM_014141.5:c.208+18166del	NP_054860.1:n.208+18166del
XM_017011950.2:c.208+18166del	XP_016867439.1:n.208+18166del
NM_014141.6:c.208+18166del MANE Select	NP_054860.1:n.208+18166del