Canonical Allele Identifier: CA1045358617

Gene: COLQ

Linked Data

• gnomAD v3: 3-15470670-C-CCGAG
• gnomAD v4: 3-15470670-C-CCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470670_15470671insCGAG , CM000665.2:g.15470670_15470671insCGAG	GRCh38
NC_000003.11:g.15512177_15512178insCGAG , CM000665.1:g.15512177_15512178insCGAG	GRCh37
NC_000003.10:g.15487181_15487182insCGAG	NCBI36
NG_009032.1:g.56081_56082insCTCG
NG_009032.2:g.56081_56082insCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-55_637-54insCTCG MANE Select	ENSP00000373298.3:n.637-55_637-54insCTCG
ENST00000604401.2:n.633-55_633-54insCTCG
ENST00000679838.1:c.*399-55_*399-54insCTCG	ENSP00000505708.1:n.*399-55_*399-54insCTCG
ENST00000680545.1:n.403-55_403-54insCTCG
ENST00000681097.1:c.637-55_637-54insCTCG	ENSP00000505397.1:n.637-55_637-54insCTCG
ENST00000383781.8:c.607-55_607-54insCTCG	ENSP00000373291.3:n.607-55_607-54insCTCG
ENST00000383786.9:c.535-55_535-54insCTCG	ENSP00000373296.3:n.535-55_535-54insCTCG
ENST00000383788.9:c.637-55_637-54insCTCG	ENSP00000373298.3:n.637-55_637-54insCTCG
ENST00000603808.5:c.637-55_637-54insCTCG	ENSP00000474271.1:n.637-55_637-54insCTCG
ENST00000605797.1:c.466-55_466-54insCTCG	ENSP00000474936.1:n.466-55_466-54insCTCG
NM_005677.3:c.637-55_637-54insCTCG	NP_005668.2:n.637-55_637-54insCTCG
NM_080538.2:c.607-55_607-54insCTCG	NP_536799.1:n.607-55_607-54insCTCG
NM_080539.3:c.535-55_535-54insCTCG	NP_536800.2:n.535-55_535-54insCTCG
NM_005677.4:c.637-55_637-54insCTCG MANE Select	NP_005668.2:n.637-55_637-54insCTCG
NM_080539.4:c.535-55_535-54insCTCG	NP_536800.2:n.535-55_535-54insCTCG