Canonical Allele Identifier: CA168646733

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs958435510
• gnomAD v2: 7-146489714-TA-T
• gnomAD v3: 7-146792622-TA-T
• gnomAD v4: 7-146792622-TA-T
• MyVariant Identifiers: chr7:g.146489715del (hg19) ; chr7:g.146792623del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792625del , CM000669.2:g.146792625del	GRCh38
NC_000007.13:g.146489717del , CM000669.1:g.146489717del	GRCh37
NC_000007.12:g.146120650del	NCBI36
NG_007092.2:g.681265del
NG_007092.3:g.681625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18244del MANE Select	ENSP00000354778.3:n.208+18244del
ENST00000636561.1:n.111+18244del
ENST00000637150.1:n.137+18244del
ENST00000637694.1:n.111+18244del
ENST00000638117.1:n.111+18244del
ENST00000361727.7:c.208+18244del	ENSP00000354778.3:n.208+18244del
ENST00000625365.2:c.208+18244del	ENSP00000485955.1:n.208+18244del
NM_014141.5:c.208+18244del	NP_054860.1:n.208+18244del
XM_017011950.2:c.208+18244del	XP_016867439.1:n.208+18244del
NM_014141.6:c.208+18244del MANE Select	NP_054860.1:n.208+18244del