Canonical Allele Identifier: CA578594874

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs397978357
• gnomAD v2: 7-146489360-TA-T
• gnomAD v3: 7-146792268-TA-T
• gnomAD v4: 7-146792268-TA-T
• MyVariant Identifiers: chr7:g.146489361del (hg19) ; chr7:g.146792269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792278del , CM000669.2:g.146792278del	GRCh38
NC_000007.13:g.146489370del , CM000669.1:g.146489370del	GRCh37
NC_000007.12:g.146120303del	NCBI36
NG_007092.2:g.680918del
NG_007092.3:g.681278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17897del MANE Select	ENSP00000354778.3:n.208+17897del
ENST00000636561.1:n.111+17897del
ENST00000637150.1:n.137+17897del
ENST00000637694.1:n.111+17897del
ENST00000638117.1:n.111+17897del
ENST00000361727.7:c.208+17897del	ENSP00000354778.3:n.208+17897del
ENST00000625365.2:c.208+17897del	ENSP00000485955.1:n.208+17897del
NM_014141.5:c.208+17897del	NP_054860.1:n.208+17897del
XM_017011950.2:c.208+17897del	XP_016867439.1:n.208+17897del
NM_014141.6:c.208+17897del MANE Select	NP_054860.1:n.208+17897del