Canonical Allele Identifier: CA1108356348

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs550596893
• gnomAD v3: 7-146792250-CAAAA-C
• gnomAD v4: 7-146792250-CAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792256_146792259del , CM000669.2:g.146792256_146792259del	GRCh38
NC_000007.13:g.146489348_146489351del , CM000669.1:g.146489348_146489351del	GRCh37
NC_000007.12:g.146120281_146120284del	NCBI36
NG_007092.2:g.680896_680899del
NG_007092.3:g.681256_681259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17875_208+17878del MANE Select	ENSP00000354778.3:n.208+17875_208+17878del
ENST00000636561.1:n.111+17875_111+17878del
ENST00000637150.1:n.137+17875_137+17878del
ENST00000637694.1:n.111+17875_111+17878del
ENST00000638117.1:n.111+17875_111+17878del
ENST00000361727.7:c.208+17875_208+17878del	ENSP00000354778.3:n.208+17875_208+17878del
ENST00000625365.2:c.208+17875_208+17878del	ENSP00000485955.1:n.208+17875_208+17878del
NM_014141.5:c.208+17875_208+17878del	NP_054860.1:n.208+17875_208+17878del
XM_017011950.2:c.208+17875_208+17878del	XP_016867439.1:n.208+17875_208+17878del
NM_014141.6:c.208+17875_208+17878del MANE Select	NP_054860.1:n.208+17875_208+17878del