Canonical Allele Identifier: CA2276044

Gene: COLQ

Linked Data

• dbSNP Id: rs753505040
• ExAC: 3:15512193 GCCAGTCATTGGCT / G
• gnomAD v2: 3-15512193-GCCAGTCATTGGCT-G
• gnomAD v3: 3-15470686-GCCAGTCATTGGCT-G
• gnomAD v4: 3-15470686-GCCAGTCATTGGCT-G
• MyVariant Identifiers: chr3:g.15512194_15512206del (hg19) ; chr3:g.15470687_15470699del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470687_15470699del , CM000665.2:g.15470687_15470699del	GRCh38
NC_000003.11:g.15512194_15512206del , CM000665.1:g.15512194_15512206del	GRCh37
NC_000003.10:g.15487198_15487210del	NCBI36
NG_009032.1:g.56053_56065del
NG_009032.2:g.56053_56065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-83_637-71del MANE Select	ENSP00000373298.3:n.637-83_637-71del
ENST00000604401.2:n.633-83_633-71del
ENST00000679838.1:c.*399-83_*399-71del	ENSP00000505708.1:n.*399-83_*399-71del
ENST00000680545.1:n.403-83_403-71del
ENST00000681097.1:c.637-83_637-71del	ENSP00000505397.1:n.637-83_637-71del
ENST00000383781.8:c.607-83_607-71del	ENSP00000373291.3:n.607-83_607-71del
ENST00000383786.9:c.535-83_535-71del	ENSP00000373296.3:n.535-83_535-71del
ENST00000383788.9:c.637-83_637-71del	ENSP00000373298.3:n.637-83_637-71del
ENST00000603808.5:c.637-83_637-71del	ENSP00000474271.1:n.637-83_637-71del
ENST00000605797.1:c.466-83_466-71del	ENSP00000474936.1:n.466-83_466-71del
NM_005677.3:c.637-83_637-71del	NP_005668.2:n.637-83_637-71del
NM_080538.2:c.607-83_607-71del	NP_536799.1:n.607-83_607-71del
NM_080539.3:c.535-83_535-71del	NP_536800.2:n.535-83_535-71del
NM_005677.4:c.637-83_637-71del MANE Select	NP_005668.2:n.637-83_637-71del
NM_080539.4:c.535-83_535-71del	NP_536800.2:n.535-83_535-71del