Canonical Allele Identifier: CA168735776

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs143109550
• gnomAD v2: 7-147189671-CAG-C
• gnomAD v3: 7-147492579-CAG-C
• gnomAD v4: 7-147492579-CAG-C
• MyVariant Identifiers: chr7:g.147189672_147189673del (hg19) ; chr7:g.147492580_147492581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492580_147492581del , CM000669.2:g.147492580_147492581del	GRCh38
NC_000007.13:g.147189672_147189673del , CM000669.1:g.147189672_147189673del	GRCh37
NC_000007.12:g.146820605_146820606del	NCBI36
NG_007092.2:g.1381220_1381221del
NG_007092.3:g.1381580_1381581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+6539_1777+6540del MANE Select	ENSP00000354778.3:n.1777+6539_1777+6540del
ENST00000636870.1:n.1639+6539_1639+6540del
ENST00000637694.1:n.1681-4041_1681-4040del
ENST00000637825.1:n.1260+6539_1260+6540del
ENST00000638117.1:n.1680+6539_1680+6540del
ENST00000361727.7:c.1777+6539_1777+6540del	ENSP00000354778.3:n.1777+6539_1777+6540del
NM_014141.5:c.1777+6539_1777+6540del	NP_054860.1:n.1777+6539_1777+6540del
XM_006715919.1:c.265+6539_265+6540del	XP_006715982.1:n.265+6539_265+6540del
XM_017011950.2:c.1777+6539_1777+6540del	XP_016867439.1:n.1777+6539_1777+6540del
NM_014141.6:c.1777+6539_1777+6540del MANE Select	NP_054860.1:n.1777+6539_1777+6540del