Canonical Allele Identifier: CA578629190

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1337438496
• gnomAD v2: 7-146829616-TTTG-T
• gnomAD v4: 7-147132524-TTTG-T
• MyVariant Identifiers: chr7:g.146829617_146829619del (hg19) ; chr7:g.147132525_147132527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132525_147132527del , CM000669.2:g.147132525_147132527del	GRCh38
NC_000007.13:g.146829617_146829619del , CM000669.1:g.146829617_146829619del	GRCh37
NC_000007.12:g.146460550_146460552del	NCBI36
NG_007092.2:g.1021165_1021167del
NG_007092.3:g.1021525_1021527del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1348+16_1348+18del MANE Select	ENSP00000354778.3:n.1348+16_1348+18del
ENST00000636561.1:n.1251+16_1251+18del
ENST00000636870.1:n.1210+16_1210+18del
ENST00000637150.1:n.1277+16_1277+18del
ENST00000637694.1:n.1251+16_1251+18del
ENST00000637825.1:n.831+16_831+18del
ENST00000638117.1:n.1251+16_1251+18del
ENST00000361727.7:c.1348+16_1348+18del	ENSP00000354778.3:n.1348+16_1348+18del
NM_014141.5:c.1348+16_1348+18del	NP_054860.1:n.1348+16_1348+18del
XM_017011950.2:c.1348+16_1348+18del	XP_016867439.1:n.1348+16_1348+18del
NM_014141.6:c.1348+16_1348+18del MANE Select	NP_054860.1:n.1348+16_1348+18del