Canonical Allele Identifier: CA324042391

Gene: C1QTNF6

Linked Data

• dbSNP Id: rs990747422
• gnomAD v2: 22-37581195-T-TCC
• gnomAD v3: 22-37185155-T-TCC
• gnomAD v4: 22-37185155-T-TCC
• MyVariant Identifiers: chr22:g.37581195_37581196insCC (hg19) ; chr22:g.37185155_37185156insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185157_37185158dup , CM000684.2:g.37185157_37185158dup	GRCh38
NC_000022.10:g.37581197_37581198dup , CM000684.1:g.37581197_37581198dup	GRCh37
NC_000022.9:g.35911143_35911144dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337843.7:c.289+61_289+62dup MANE Select	ENSP00000338812.2:n.289+61_289+62dup
ENST00000337843.6:c.289+61_289+62dup	ENSP00000338812.2:n.289+61_289+62dup
ENST00000397110.6:c.289+61_289+62dup	ENSP00000380299.2:n.289+61_289+62dup
ENST00000434784.1:c.289+61_289+62dup	ENSP00000399243.1:n.289+61_289+62dup
ENST00000470655.5:n.3779+61_3779+62dup
ENST00000493023.1:n.731+61_731+62dup
NM_031910.3:c.289+61_289+62dup	NP_114116.3:n.289+61_289+62dup
NM_182486.1:c.289+61_289+62dup	NP_872292.1:n.289+61_289+62dup
XM_006724125.2:c.232+61_232+62dup	XP_006724188.1:n.232+61_232+62dup
XM_011529857.1:c.232+61_232+62dup	XP_011528159.1:n.232+61_232+62dup
NM_001365878.1:c.232+61_232+62dup	NP_001352807.1:n.232+61_232+62dup
XM_011529857.2:c.232+61_232+62dup	XP_011528159.1:n.232+61_232+62dup
XM_017028569.1:c.289+61_289+62dup	XP_016884058.1:n.289+61_289+62dup
XM_024452150.1:c.289+61_289+62dup	XP_024307918.1:n.289+61_289+62dup
XM_024452151.1:c.289+61_289+62dup	XP_024307919.1:n.289+61_289+62dup
XM_024452152.1:c.289+61_289+62dup	XP_024307920.1:n.289+61_289+62dup
XM_024452153.1:c.289+61_289+62dup	XP_024307921.1:n.289+61_289+62dup
XM_024452154.1:c.289+61_289+62dup	XP_024307922.1:n.289+61_289+62dup
XM_024452155.1:c.232+61_232+62dup	XP_024307923.1:n.232+61_232+62dup
NM_031910.4:c.289+61_289+62dup MANE Select	NP_114116.3:n.289+61_289+62dup
NM_182486.2:c.289+61_289+62dup	NP_872292.1:n.289+61_289+62dup