Canonical Allele Identifier: CA834912265

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1400300213
• gnomAD v3: 7-147877740-TTTTG-T
• gnomAD v4: 7-147877740-TTTTG-T
• MyVariant Identifiers: chr7:g.147574833_147574836del (hg19) ; chr7:g.147877741_147877744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147877752_147877755del , CM000669.2:g.147877752_147877755del	GRCh38
NC_000007.13:g.147574844_147574847del , CM000669.1:g.147574844_147574847del	GRCh37
NC_000007.12:g.147205777_147205780del	NCBI36
NG_007092.2:g.1766392_1766395del
NG_007092.3:g.1766752_1766755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-25813_2099-25810del MANE Select	ENSP00000354778.3:n.2099-25813_2099-25810del
ENST00000636870.1:n.1961-25813_1961-25810del
ENST00000637825.1:n.1582-25813_1582-25810del
ENST00000361727.7:c.2099-25813_2099-25810del	ENSP00000354778.3:n.2099-25813_2099-25810del
ENST00000455301.2:n.34-25813_34-25810del
ENST00000627772.2:n.272-25813_272-25810del
NM_014141.5:c.2099-25813_2099-25810del	NP_054860.1:n.2099-25813_2099-25810del
XM_006715919.1:c.587-25813_587-25810del	XP_006715982.1:n.587-25813_587-25810del
NM_014141.6:c.2099-25813_2099-25810del MANE Select	NP_054860.1:n.2099-25813_2099-25810del