Canonical Allele Identifier: CA2605368556

Gene: CNTNAP2

Linked Data

• gnomAD v3: 7-146792258-AAG-A
• gnomAD v4: 7-146792258-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792260_146792261del , CM000669.2:g.146792260_146792261del	GRCh38
NC_000007.13:g.146489352_146489353del , CM000669.1:g.146489352_146489353del	GRCh37
NC_000007.12:g.146120285_146120286del	NCBI36
NG_007092.2:g.680900_680901del
NG_007092.3:g.681260_681261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17879_208+17880del MANE Select	ENSP00000354778.3:n.208+17879_208+17880del
ENST00000636561.1:n.111+17879_111+17880del
ENST00000637150.1:n.137+17879_137+17880del
ENST00000637694.1:n.111+17879_111+17880del
ENST00000638117.1:n.111+17879_111+17880del
ENST00000361727.7:c.208+17879_208+17880del	ENSP00000354778.3:n.208+17879_208+17880del
ENST00000625365.2:c.208+17879_208+17880del	ENSP00000485955.1:n.208+17879_208+17880del
NM_014141.5:c.208+17879_208+17880del	NP_054860.1:n.208+17879_208+17880del
XM_017011950.2:c.208+17879_208+17880del	XP_016867439.1:n.208+17879_208+17880del
NM_014141.6:c.208+17879_208+17880del MANE Select	NP_054860.1:n.208+17879_208+17880del