Canonical Allele Identifier: CA1750436645
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1802423533

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146778198_146778200del , CM000669.2:g.146778198_146778200del GRCh38
NC_000007.13:g.146475290_146475292del , CM000669.1:g.146475290_146475292del GRCh37
NC_000007.12:g.146106223_146106225del NCBI36
NG_007092.2:g.666838_666840del
NG_007092.3:g.667198_667200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+3817_208+3819del MANE Select ENSP00000354778.3:n.208+3817_208+3819del
ENST00000636277.1:n.75+3817_75+3819del
ENST00000636561.1:n.111+3817_111+3819del
ENST00000636600.1:n.58+3817_58+3819del
ENST00000637150.1:n.137+3817_137+3819del
ENST00000637694.1:n.111+3817_111+3819del
ENST00000638117.1:n.111+3817_111+3819del
ENST00000361727.7:c.208+3817_208+3819del ENSP00000354778.3:n.208+3817_208+3819del
ENST00000625365.2:c.208+3817_208+3819del ENSP00000485955.1:n.208+3817_208+3819del
NM_014141.5:c.208+3817_208+3819del NP_054860.1:n.208+3817_208+3819del
XM_017011950.2:c.208+3817_208+3819del XP_016867439.1:n.208+3817_208+3819del
NM_014141.6:c.208+3817_208+3819del MANE Select NP_054860.1:n.208+3817_208+3819del