Canonical Allele Identifier: CA1108356528
Gene: CNTNAP2 HGNC NCBI
gnomAD v3:
7:146792519 A / AAG
gnomAD v4:
chr7-146792519-A-AAG
Joint Max Group AF 0.00016885 (SAS)
Genomes Max Group AF 0.00016885 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792521_146792522dup , CM000669.2:g.146792521_146792522dup GRCh38
NC_000007.13:g.146489613_146489614dup , CM000669.1:g.146489613_146489614dup GRCh37
NC_000007.12:g.146120546_146120547dup NCBI36
NG_007092.2:g.681161_681162dup
NG_007092.3:g.681521_681522dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+18140_208+18141dup MANE Select ENSP00000354778.3:n.208+18140_208+18141dup
ENST00000636561.1:n.111+18140_111+18141dup
ENST00000637150.1:n.137+18140_137+18141dup
ENST00000637694.1:n.111+18140_111+18141dup
ENST00000638117.1:n.111+18140_111+18141dup
ENST00000361727.7:c.208+18140_208+18141dup ENSP00000354778.3:n.208+18140_208+18141dup
ENST00000625365.2:c.208+18140_208+18141dup ENSP00000485955.1:n.208+18140_208+18141dup
NM_014141.5:c.208+18140_208+18141dup NP_054860.1:n.208+18140_208+18141dup
XM_017011950.2:c.208+18140_208+18141dup XP_016867439.1:n.208+18140_208+18141dup
NM_014141.6:c.208+18140_208+18141dup MANE Select NP_054860.1:n.208+18140_208+18141dup
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