Canonical Allele Identifier: CA212834
Gene: CNTNAP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148383882del , CM000669.2:g.148383882del GRCh38
NC_000007.13:g.148080974del , CM000669.1:g.148080974del GRCh37
NC_000007.12:g.147711907del NCBI36
NG_007092.2:g.2272522del
NG_007092.3:g.2272882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.3709del MANE Select ENSP00000354778.3:p.Asp1237IlefsTer17
ENST00000636242.1:n.510del
ENST00000636399.1:n.434del
ENST00000636870.1:n.3571del
ENST00000637020.1:n.1527del
ENST00000361727.7:c.3709del ENSP00000354778.3:p.Asp1237IlefsTer17
ENST00000463592.3:c.40del ENSP00000486292.1:p.Asp14IlefsTer17
ENST00000627772.2:n.1882del
ENST00000628930.2:c.886del ENSP00000487516.1:p.Asp296IlefsTer17
NM_014141.5:c.3709del NP_054860.1:p.Asp1237IlefsTer17
XM_006715919.1:c.2197del XP_006715982.1:p.Asp733IlefsTer17
XR_928093.1:n.439-2211del
XR_928094.1:n.700-2211del
XR_001744998.1:n.546-2211del
XR_928093.2:n.478-2211del
NM_014141.6:c.3709del MANE Select NP_054860.1:p.Asp1237IlefsTer17
Search 100 bp 5'
Search 100 bp 3'