Canonical Allele Identifier: CA4545974

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs750006152
• ExAC: 7:146829300 CTG / C
• gnomAD v2: 7-146829300-CTG-C
• gnomAD v4: 7-147132208-CTG-C
• MyVariant Identifiers: chr7:g.146829301_146829302del (hg19) ; chr7:g.147132209_147132210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132212_147132213del , CM000669.2:g.147132212_147132213del	GRCh38
NC_000007.13:g.146829304_146829305del , CM000669.1:g.146829304_146829305del	GRCh37
NC_000007.12:g.146460237_146460238del	NCBI36
NG_007092.2:g.1020852_1020853del
NG_007092.3:g.1021212_1021213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-33_1084-32del MANE Select	ENSP00000354778.3:n.1084-33_1084-32del
ENST00000636561.1:n.987-33_987-32del
ENST00000636870.1:n.946-33_946-32del
ENST00000637150.1:n.1013-33_1013-32del
ENST00000637694.1:n.987-33_987-32del
ENST00000637825.1:n.567-33_567-32del
ENST00000638117.1:n.987-33_987-32del
ENST00000361727.7:c.1084-33_1084-32del	ENSP00000354778.3:n.1084-33_1084-32del
NM_014141.5:c.1084-33_1084-32del	NP_054860.1:n.1084-33_1084-32del
XM_017011950.2:c.1084-33_1084-32del	XP_016867439.1:n.1084-33_1084-32del
NM_014141.6:c.1084-33_1084-32del MANE Select	NP_054860.1:n.1084-33_1084-32del