Canonical Allele Identifier: CA2685448893

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132434-G-GAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132435_147132436insAAAA , CM000669.2:g.147132435_147132436insAAAA	GRCh38
NC_000007.13:g.146829527_146829528insAAAA , CM000669.1:g.146829527_146829528insAAAA	GRCh37
NC_000007.12:g.146460460_146460461insAAAA	NCBI36
NG_007092.2:g.1021075_1021076insAAAA
NG_007092.3:g.1021435_1021436insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1274_1275insAAAA MANE Select	ENSP00000354778.3:p.Asp425GlufsTer5
ENST00000636561.1:n.1177_1178insAAAA
ENST00000636870.1:n.1136_1137insAAAA
ENST00000637150.1:n.1203_1204insAAAA
ENST00000637694.1:n.1177_1178insAAAA
ENST00000637825.1:n.757_758insAAAA
ENST00000638117.1:n.1177_1178insAAAA
ENST00000361727.7:c.1274_1275insAAAA	ENSP00000354778.3:p.Asp425GlufsTer5
NM_014141.5:c.1274_1275insAAAA	NP_054860.1:p.Asp425GlufsTer5
XM_017011950.2:c.1274_1275insAAAA	XP_016867439.1:p.Asp425GlufsTer5
NM_014141.6:c.1274_1275insAAAA MANE Select	NP_054860.1:p.Asp425GlufsTer5