Canonical Allele Identifier: CA834841376

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1299313671
• gnomAD v3: 7-146778365-TGTCAGG-T
• gnomAD v4: 7-146778365-TGTCAGG-T
• MyVariant Identifiers: chr7:g.146475458_146475463del (hg19) ; chr7:g.146778366_146778371del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778367_146778372del , CM000669.2:g.146778367_146778372del	GRCh38
NC_000007.13:g.146475459_146475464del , CM000669.1:g.146475459_146475464del	GRCh37
NC_000007.12:g.146106392_146106397del	NCBI36
NG_007092.2:g.667007_667012del
NG_007092.3:g.667367_667372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+3986_208+3991del MANE Select	ENSP00000354778.3:n.208+3986_208+3991del
ENST00000636277.1:n.75+3986_75+3991del
ENST00000636561.1:n.111+3986_111+3991del
ENST00000636600.1:n.59-3842_59-3837del
ENST00000637150.1:n.137+3986_137+3991del
ENST00000637694.1:n.111+3986_111+3991del
ENST00000638117.1:n.111+3986_111+3991del
ENST00000361727.7:c.208+3986_208+3991del	ENSP00000354778.3:n.208+3986_208+3991del
ENST00000625365.2:c.208+3986_208+3991del	ENSP00000485955.1:n.208+3986_208+3991del
NM_014141.5:c.208+3986_208+3991del	NP_054860.1:n.208+3986_208+3991del
XM_017011950.2:c.208+3986_208+3991del	XP_016867439.1:n.208+3986_208+3991del
NM_014141.6:c.208+3986_208+3991del MANE Select	NP_054860.1:n.208+3986_208+3991del