Canonical Allele Identifier: CA2656502111

Gene: C1QTNF6

Linked Data

• gnomAD v4: 22-37185292-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185293del , CM000684.2:g.37185293del	GRCh38
NC_000022.10:g.37581333del , CM000684.1:g.37581333del	GRCh37
NC_000022.9:g.35911279del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337843.7:c.214del MANE Select	ENSP00000338812.2:p.Ser72ProfsTer24
ENST00000337843.6:c.214del	ENSP00000338812.2:p.Ser72ProfsTer24
ENST00000397110.6:c.214del	ENSP00000380299.2:p.Ser72ProfsTer24
ENST00000434784.1:c.214del	ENSP00000399243.1:p.Ser72ProfsTer24
ENST00000470655.5:n.3704del
ENST00000493023.1:n.656del
NM_031910.3:c.214del	NP_114116.3:p.Ser72ProfsTer24
NM_182486.1:c.214del	NP_872292.1:p.Ser72ProfsTer24
XM_006724125.2:c.157del	XP_006724188.1:p.Ser53ProfsTer24
XM_011529857.1:c.157del	XP_011528159.1:p.Ser53ProfsTer24
NM_001365878.1:c.157del	NP_001352807.1:p.Ser53ProfsTer24
XM_011529857.2:c.157del	XP_011528159.1:p.Ser53ProfsTer24
XM_017028569.1:c.214del	XP_016884058.1:p.Ser72ProfsTer24
XM_024452150.1:c.214del	XP_024307918.1:p.Ser72ProfsTer24
XM_024452151.1:c.214del	XP_024307919.1:p.Ser72ProfsTer24
XM_024452152.1:c.214del	XP_024307920.1:p.Ser72ProfsTer24
XM_024452153.1:c.214del	XP_024307921.1:p.Ser72ProfsTer24
XM_024452154.1:c.214del	XP_024307922.1:p.Ser72ProfsTer24
XM_024452155.1:c.157del	XP_024307923.1:p.Ser53ProfsTer24
NM_031910.4:c.214del MANE Select	NP_114116.3:p.Ser72ProfsTer24
NM_182486.2:c.214del	NP_872292.1:p.Ser72ProfsTer24