Canonical Allele Identifier: CA941453924

Gene: CNTN5

Linked Data

• dbSNP Id: rs1951258150
• gnomAD v3: 11-100302849-AAATT-A
• gnomAD v4: 11-100302849-AAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.100302855_100302858del , CM000673.2:g.100302855_100302858del	GRCh38
NC_000011.9:g.100173587_100173590del , CM000673.1:g.100173587_100173590del	GRCh37
NC_000011.8:g.99678797_99678800del	NCBI36
NG_047156.1:g.1286880_1286883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524871.6:c.2620+3459_2620+3462del MANE Select	ENSP00000435637.1:n.2620+3459_2620+3462del
ENST00000279463.7:c.2572+3459_2572+3462del	ENSP00000279463.4:n.2572+3459_2572+3462del
ENST00000418526.6:c.2398+3459_2398+3462del	ENSP00000393229.2:n.2398+3459_2398+3462del
ENST00000524560.1:n.868+3459_868+3462del
ENST00000524871.5:c.2620+3459_2620+3462del	ENSP00000435637.1:n.2620+3459_2620+3462del
ENST00000527185.5:c.2620+3459_2620+3462del	ENSP00000433575.1:n.2620+3459_2620+3462del
ENST00000528682.5:c.2620+3459_2620+3462del	ENSP00000436185.1:n.2620+3459_2620+3462del
ENST00000619298.1:c.2386+3459_2386+3462del	ENSP00000478120.1:n.2386+3459_2386+3462del
NM_001243270.1:c.2620+3459_2620+3462del	NP_001230199.1:n.2620+3459_2620+3462del
NM_001243271.1:c.2620+3459_2620+3462del	NP_001230200.1:n.2620+3459_2620+3462del
NM_014361.3:c.2620+3459_2620+3462del	NP_055176.1:n.2620+3459_2620+3462del
NM_175566.2:c.2398+3459_2398+3462del	NP_780775.1:n.2398+3459_2398+3462del
XM_011542871.1:c.2398+3459_2398+3462del	XP_011541173.1:n.2398+3459_2398+3462del
XM_017017926.1:c.2620+3459_2620+3462del	XP_016873415.1:n.2620+3459_2620+3462del
XR_001747909.1:n.3003+3459_3003+3462del
NM_014361.4:c.2620+3459_2620+3462del MANE Select	NP_055176.1:n.2620+3459_2620+3462del
NM_001243270.2:c.2620+3459_2620+3462del	NP_001230199.1:n.2620+3459_2620+3462del
NM_001243271.2:c.2620+3459_2620+3462del	NP_001230200.1:n.2620+3459_2620+3462del