Canonical Allele Identifier: CA1750436629
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802422531

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778152del , CM000669.2:g.146778152del GRCh38
NC_000007.13:g.146475244del , CM000669.1:g.146475244del GRCh37
NC_000007.12:g.146106177del NCBI36
NG_007092.2:g.666792del
NG_007092.3:g.667152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3771del MANE Select ENSP00000354778.3:n.208+3771del
ENST00000636277.1:n.75+3771del
ENST00000636561.1:n.111+3771del
ENST00000636600.1:n.58+3771del
ENST00000637150.1:n.137+3771del
ENST00000637694.1:n.111+3771del
ENST00000638117.1:n.111+3771del
ENST00000361727.7:c.208+3771del ENSP00000354778.3:n.208+3771del
ENST00000625365.2:c.208+3771del ENSP00000485955.1:n.208+3771del
NM_014141.5:c.208+3771del NP_054860.1:n.208+3771del
XM_017011950.2:c.208+3771del XP_016867439.1:n.208+3771del
NM_014141.6:c.208+3771del MANE Select NP_054860.1:n.208+3771del