Canonical Allele Identifier: CA1108356386

Gene: CNTNAP2

Linked Data

• gnomAD v3: 7-146792268-T-TAAAA
• gnomAD v4: 7-146792268-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792275_146792278dup , CM000669.2:g.146792275_146792278dup	GRCh38
NC_000007.13:g.146489367_146489370dup , CM000669.1:g.146489367_146489370dup	GRCh37
NC_000007.12:g.146120300_146120303dup	NCBI36
NG_007092.2:g.680915_680918dup
NG_007092.3:g.681275_681278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17894_208+17897dup MANE Select	ENSP00000354778.3:n.208+17894_208+17897dup
ENST00000636561.1:n.111+17894_111+17897dup
ENST00000637150.1:n.137+17894_137+17897dup
ENST00000637694.1:n.111+17894_111+17897dup
ENST00000638117.1:n.111+17894_111+17897dup
ENST00000361727.7:c.208+17894_208+17897dup	ENSP00000354778.3:n.208+17894_208+17897dup
ENST00000625365.2:c.208+17894_208+17897dup	ENSP00000485955.1:n.208+17894_208+17897dup
NM_014141.5:c.208+17894_208+17897dup	NP_054860.1:n.208+17894_208+17897dup
XM_017011950.2:c.208+17894_208+17897dup	XP_016867439.1:n.208+17894_208+17897dup
NM_014141.6:c.208+17894_208+17897dup MANE Select	NP_054860.1:n.208+17894_208+17897dup