Canonical Allele Identifier: CA578860333

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1439385239
• gnomAD v2: 7-147579864-CAGGACAGAACCCAGGAAATCCAAT-C
• gnomAD v3: 7-147882772-CAGGACAGAACCCAGGAAATCCAAT-C
• gnomAD v4: 7-147882772-CAGGACAGAACCCAGGAAATCCAAT-C
• MyVariant Identifiers: chr7:g.147579865_147579888del (hg19) ; chr7:g.147882773_147882796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882774_147882797del , CM000669.2:g.147882774_147882797del	GRCh38
NC_000007.13:g.147579866_147579889del , CM000669.1:g.147579866_147579889del	GRCh37
NC_000007.12:g.147210799_147210822del	NCBI36
NG_007092.2:g.1771414_1771437del
NG_007092.3:g.1771774_1771797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20791_2099-20768del MANE Select	ENSP00000354778.3:n.2099-20791_2099-20768del
ENST00000636870.1:n.1961-20791_1961-20768del
ENST00000637825.1:n.1582-20791_1582-20768del
ENST00000361727.7:c.2099-20791_2099-20768del	ENSP00000354778.3:n.2099-20791_2099-20768del
ENST00000455301.2:n.34-20791_34-20768del
ENST00000627772.2:n.272-20791_272-20768del
NM_014141.5:c.2099-20791_2099-20768del	NP_054860.1:n.2099-20791_2099-20768del
XM_006715919.1:c.587-20791_587-20768del	XP_006715982.1:n.587-20791_587-20768del
NM_014141.6:c.2099-20791_2099-20768del MANE Select	NP_054860.1:n.2099-20791_2099-20768del