Canonical Allele Identifier: CA432643524

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512123_15512124insTTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470616_15470617insTTT , CM000665.2:g.15470616_15470617insTTT	GRCh38
NC_000003.11:g.15512123_15512124insTTT , CM000665.1:g.15512123_15512124insTTT	GRCh37
NC_000003.10:g.15487127_15487128insTTT	NCBI36
NG_009032.1:g.56135_56136insAAA
NG_009032.2:g.56135_56136insAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-1_637insAAA MANE Select	ENSP00000373298.3:n.637-1_637insAAA
ENST00000604401.2:n.633-1_633insAAA
ENST00000679838.1:c.*399-1_*399insAAA	ENSP00000505708.1:n.*399-1_*399insAAA
ENST00000680545.1:n.403-1_403insAAA
ENST00000681097.1:c.637-1_637insAAA	ENSP00000505397.1:n.637-1_637insAAA
ENST00000383781.8:c.607-1_607insAAA	ENSP00000373291.3:n.607-1_607insAAA
ENST00000383786.9:c.535-1_535insAAA	ENSP00000373296.3:n.535-1_535insAAA
ENST00000383788.9:c.637-1_637insAAA	ENSP00000373298.3:n.637-1_637insAAA
ENST00000603808.5:c.637-1_637insAAA	ENSP00000474271.1:n.637-1_637insAAA
ENST00000605797.1:c.466-1_466insAAA	ENSP00000474936.1:n.466-1_466insAAA
NM_005677.3:c.637-1_637insAAA	NP_005668.2:n.637-1_637insAAA
NM_080538.2:c.607-1_607insAAA	NP_536799.1:n.607-1_607insAAA
NM_080539.3:c.535-1_535insAAA	NP_536800.2:n.535-1_535insAAA
NM_005677.4:c.637-1_637insAAA MANE Select	NP_005668.2:n.637-1_637insAAA
NM_080539.4:c.535-1_535insAAA	NP_536800.2:n.535-1_535insAAA