Canonical Allele Identifier: CA168646693

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs928299284
• gnomAD v2: 7-146489372-ACT-A
• gnomAD v3: 7-146792280-ACT-A
• gnomAD v4: 7-146792280-ACT-A
• MyVariant Identifiers: chr7:g.146489373_146489374del (hg19) ; chr7:g.146792281_146792282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792283_146792284del , CM000669.2:g.146792283_146792284del	GRCh38
NC_000007.13:g.146489375_146489376del , CM000669.1:g.146489375_146489376del	GRCh37
NC_000007.12:g.146120308_146120309del	NCBI36
NG_007092.2:g.680923_680924del
NG_007092.3:g.681283_681284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17902_208+17903del MANE Select	ENSP00000354778.3:n.208+17902_208+17903del
ENST00000636561.1:n.111+17902_111+17903del
ENST00000637150.1:n.137+17902_137+17903del
ENST00000637694.1:n.111+17902_111+17903del
ENST00000638117.1:n.111+17902_111+17903del
ENST00000361727.7:c.208+17902_208+17903del	ENSP00000354778.3:n.208+17902_208+17903del
ENST00000625365.2:c.208+17902_208+17903del	ENSP00000485955.1:n.208+17902_208+17903del
NM_014141.5:c.208+17902_208+17903del	NP_054860.1:n.208+17902_208+17903del
XM_017011950.2:c.208+17902_208+17903del	XP_016867439.1:n.208+17902_208+17903del
NM_014141.6:c.208+17902_208+17903del MANE Select	NP_054860.1:n.208+17902_208+17903del