Canonical Allele Identifier: CA2685448877

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132200-ATTTTATTCTGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132205_147132216del , CM000669.2:g.147132205_147132216del	GRCh38
NC_000007.13:g.146829297_146829308del , CM000669.1:g.146829297_146829308del	GRCh37
NC_000007.12:g.146460230_146460241del	NCBI36
NG_007092.2:g.1020845_1020856del
NG_007092.3:g.1021205_1021216del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1084-40_1084-29del MANE Select	ENSP00000354778.3:n.1084-40_1084-29del
ENST00000636561.1:n.987-40_987-29del
ENST00000636870.1:n.946-40_946-29del
ENST00000637150.1:n.1013-40_1013-29del
ENST00000637694.1:n.987-40_987-29del
ENST00000637825.1:n.567-40_567-29del
ENST00000638117.1:n.987-40_987-29del
ENST00000361727.7:c.1084-40_1084-29del	ENSP00000354778.3:n.1084-40_1084-29del
NM_014141.5:c.1084-40_1084-29del	NP_054860.1:n.1084-40_1084-29del
XM_017011950.2:c.1084-40_1084-29del	XP_016867439.1:n.1084-40_1084-29del
NM_014141.6:c.1084-40_1084-29del MANE Select	NP_054860.1:n.1084-40_1084-29del