Canonical Allele Identifier: CA2605392858

Gene: CNTNAP2

Linked Data

• gnomAD v3: 7-147200507-G-GACTGCAACCAAAGCTGCCCAACATACACCCCAGAGGGACATT
• gnomAD v4: 7-147200507-G-GACTGCAACCAAAGCTGCCCAACATACACCCCAGAGGGACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200509_147200550dup , CM000669.2:g.147200509_147200550dup	GRCh38
NC_000007.13:g.146897601_146897642dup , CM000669.1:g.146897601_146897642dup	GRCh37
NC_000007.12:g.146528534_146528575dup	NCBI36
NG_007092.2:g.1089149_1089190dup
NG_007092.3:g.1089509_1089550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+68000_1348+68041dup MANE Select	ENSP00000354778.3:n.1348+68000_1348+68041dup
ENST00000636870.1:n.1210+68000_1210+68041dup
ENST00000637694.1:n.1251+68000_1251+68041dup
ENST00000637825.1:n.831+68000_831+68041dup
ENST00000638117.1:n.1251+68000_1251+68041dup
ENST00000361727.7:c.1348+68000_1348+68041dup	ENSP00000354778.3:n.1348+68000_1348+68041dup
NM_014141.5:c.1348+68000_1348+68041dup	NP_054860.1:n.1348+68000_1348+68041dup
XM_017011950.2:c.1348+68000_1348+68041dup	XP_016867439.1:n.1348+68000_1348+68041dup
NM_014141.6:c.1348+68000_1348+68041dup MANE Select	NP_054860.1:n.1348+68000_1348+68041dup