Canonical Allele Identifier: CA578855976

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1394037790
• gnomAD v2: 7-147615682-AT-A
• gnomAD v3: 7-147918590-AT-A
• gnomAD v4: 7-147918590-AT-A
• MyVariant Identifiers: chr7:g.147615683del (hg19) ; chr7:g.147918591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147918597del , CM000669.2:g.147918597del	GRCh38
NC_000007.13:g.147615689del , CM000669.1:g.147615689del	GRCh37
NC_000007.12:g.147246622del	NCBI36
NG_007092.2:g.1807237del
NG_007092.3:g.1807597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2255+14876del MANE Select	ENSP00000354778.3:n.2255+14876del
ENST00000636870.1:n.2117+14876del
ENST00000637825.1:n.1738+14876del
ENST00000361727.7:c.2255+14876del	ENSP00000354778.3:n.2255+14876del
ENST00000455301.2:n.190+14876del
ENST00000627772.2:n.428+14876del
NM_014141.5:c.2255+14876del	NP_054860.1:n.2255+14876del
XM_006715919.1:c.743+14876del	XP_006715982.1:n.743+14876del
NM_014141.6:c.2255+14876del MANE Select	NP_054860.1:n.2255+14876del