Canonical Allele Identifier: CA1108379639
Gene: CNTNAP2 HGNC NCBI
gnomAD v3:
7:146778237 AAAG / A
gnomAD v4:
chr7-146778237-AAAG-A
Joint Max Group AF 0.00007279 (SAS)
Genomes Max Group AF 0.00007279 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778238_146778240del , CM000669.2:g.146778238_146778240del GRCh38
NC_000007.13:g.146475330_146475332del , CM000669.1:g.146475330_146475332del GRCh37
NC_000007.12:g.146106263_146106265del NCBI36
NG_007092.2:g.666878_666880del
NG_007092.3:g.667238_667240del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3857_208+3859del MANE Select ENSP00000354778.3:n.208+3857_208+3859del
ENST00000636277.1:n.75+3857_75+3859del
ENST00000636561.1:n.111+3857_111+3859del
ENST00000636600.1:n.58+3857_58+3859del
ENST00000637150.1:n.137+3857_137+3859del
ENST00000637694.1:n.111+3857_111+3859del
ENST00000638117.1:n.111+3857_111+3859del
ENST00000361727.7:c.208+3857_208+3859del ENSP00000354778.3:n.208+3857_208+3859del
ENST00000625365.2:c.208+3857_208+3859del ENSP00000485955.1:n.208+3857_208+3859del
NM_014141.5:c.208+3857_208+3859del NP_054860.1:n.208+3857_208+3859del
XM_017011950.2:c.208+3857_208+3859del XP_016867439.1:n.208+3857_208+3859del
NM_014141.6:c.208+3857_208+3859del MANE Select NP_054860.1:n.208+3857_208+3859del
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