Canonical Allele Identifier: CA70613143

Gene: COLQ

Linked Data

• dbSNP Id: rs780230011
• gnomAD v4: 3-15470621-AAAG-A
• MyVariant Identifiers: chr3:g.15512129_15512131del (hg19) ; chr3:g.15470622_15470624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470625_15470627del , CM000665.2:g.15470625_15470627del	GRCh38
NC_000003.11:g.15512132_15512134del , CM000665.1:g.15512132_15512134del	GRCh37
NC_000003.10:g.15487136_15487138del	NCBI36
NG_009032.1:g.56128_56130del
NG_009032.2:g.56128_56130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-8_637-6del MANE Select	ENSP00000373298.3:n.637-8_637-6del
ENST00000604401.2:n.633-8_633-6del
ENST00000679838.1:c.*399-8_*399-6del	ENSP00000505708.1:n.*399-8_*399-6del
ENST00000680545.1:n.403-8_403-6del
ENST00000681097.1:c.637-8_637-6del	ENSP00000505397.1:n.637-8_637-6del
ENST00000383781.8:c.607-8_607-6del	ENSP00000373291.3:n.607-8_607-6del
ENST00000383786.9:c.535-8_535-6del	ENSP00000373296.3:n.535-8_535-6del
ENST00000383788.9:c.637-8_637-6del	ENSP00000373298.3:n.637-8_637-6del
ENST00000603808.5:c.637-8_637-6del	ENSP00000474271.1:n.637-8_637-6del
ENST00000605797.1:c.466-8_466-6del	ENSP00000474936.1:n.466-8_466-6del
NM_005677.3:c.637-8_637-6del	NP_005668.2:n.637-8_637-6del
NM_080538.2:c.607-8_607-6del	NP_536799.1:n.607-8_607-6del
NM_080539.3:c.535-8_535-6del	NP_536800.2:n.535-8_535-6del
NM_005677.4:c.637-8_637-6del MANE Select	NP_005668.2:n.637-8_637-6del
NM_080539.4:c.535-8_535-6del	NP_536800.2:n.535-8_535-6del