Canonical Allele Identifier: CA578609790

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1255365151
• gnomAD v2: 7-146897577-GA-G
• gnomAD v3: 7-147200485-GA-G
• gnomAD v4: 7-147200485-GA-G
• MyVariant Identifiers: chr7:g.146897578del (hg19) ; chr7:g.147200486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200488del , CM000669.2:g.147200488del	GRCh38
NC_000007.13:g.146897580del , CM000669.1:g.146897580del	GRCh37
NC_000007.12:g.146528513del	NCBI36
NG_007092.2:g.1089128del
NG_007092.3:g.1089488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67979del MANE Select	ENSP00000354778.3:n.1348+67979del
ENST00000636870.1:n.1210+67979del
ENST00000637694.1:n.1251+67979del
ENST00000637825.1:n.831+67979del
ENST00000638117.1:n.1251+67979del
ENST00000361727.7:c.1348+67979del	ENSP00000354778.3:n.1348+67979del
NM_014141.5:c.1348+67979del	NP_054860.1:n.1348+67979del
XM_017011950.2:c.1348+67979del	XP_016867439.1:n.1348+67979del
NM_014141.6:c.1348+67979del MANE Select	NP_054860.1:n.1348+67979del