Canonical Allele Identifier: CA834786681

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1490421167
• gnomAD v3: 7-146792523-CTA-C
• gnomAD v4: 7-146792523-CTA-C
• MyVariant Identifiers: chr7:g.146489616_146489617del (hg19) ; chr7:g.146792524_146792525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792524_146792525del , CM000669.2:g.146792524_146792525del	GRCh38
NC_000007.13:g.146489616_146489617del , CM000669.1:g.146489616_146489617del	GRCh37
NC_000007.12:g.146120549_146120550del	NCBI36
NG_007092.2:g.681164_681165del
NG_007092.3:g.681524_681525del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18143_208+18144del MANE Select	ENSP00000354778.3:n.208+18143_208+18144de...
ENST00000636561.1:n.111+18143_111+18144del
ENST00000637150.1:n.137+18143_137+18144del
ENST00000637694.1:n.111+18143_111+18144del
ENST00000638117.1:n.111+18143_111+18144del
ENST00000361727.7:c.208+18143_208+18144del	ENSP00000354778.3:n.208+18143_208+18144de...
ENST00000625365.2:c.208+18143_208+18144del	ENSP00000485955.1:n.208+18143_208+18144de...
NM_014141.5:c.208+18143_208+18144del	NP_054860.1:n.208+18143_208+18144del
XM_017011950.2:c.208+18143_208+18144del	XP_016867439.1:n.208+18143_208+18144del
NM_014141.6:c.208+18143_208+18144del MANE Select	NP_054860.1:n.208+18143_208+18144del