Canonical Allele Identifier: CA168699275
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs549254351
gnomAD v2: 7-146897274-G-GA
gnomAD v3: 7-147200182-G-GA
gnomAD v4: 7-147200182-G-GA
COSMIC: COSN1344846
MyVariant Identifiers: chr7:g.146897274_146897275insA (hg19) chr7:g.147200182_147200183insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147200191dup , CM000669.2:g.147200191dup GRCh38
NC_000007.13:g.146897283dup , CM000669.1:g.146897283dup GRCh37
NC_000007.12:g.146528216dup NCBI36
NG_007092.2:g.1088831dup
NG_007092.3:g.1089191dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.1348+67682dup MANE Select ENSP00000354778.3:n.1348+67682dup
ENST00000636870.1:n.1210+67682dup
ENST00000637694.1:n.1251+67682dup
ENST00000637825.1:n.831+67682dup
ENST00000638117.1:n.1251+67682dup
ENST00000361727.7:c.1348+67682dup ENSP00000354778.3:n.1348+67682dup
NM_014141.5:c.1348+67682dup NP_054860.1:n.1348+67682dup
XM_017011950.2:c.1348+67682dup XP_016867439.1:n.1348+67682dup
NM_014141.6:c.1348+67682dup MANE Select NP_054860.1:n.1348+67682dup
Search 100 bp 5'
Search 100 bp 3'