Canonical Allele Identifier: CA1347589266

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470624_15470629delinsGAAGGA , CM000665.2:g.15470624_15470629delinsGAAGGA	GRCh38
NC_000003.11:g.15512131_15512136delinsGAAGGA , CM000665.1:g.15512131_15512136delinsGAAGGA	GRCh37
NC_000003.10:g.15487135_15487140delinsGAAGGA	NCBI36
NG_009032.1:g.56123_56128delinsTCCTTC
NG_009032.2:g.56123_56128delinsTCCTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-13_637-8delinsTCCTTC MANE Select	ENSP00000373298.3:n.637-13_637-8delinsTCC...
ENST00000604401.2:n.633-13_633-8delinsTCCTTC
ENST00000679838.1:c.*399-13_*399-8delinsTCCTTC	ENSP00000505708.1:n.*399-13_*399-8delinsT...
ENST00000680545.1:n.403-13_403-8delinsTCCTTC
ENST00000681097.1:c.637-13_637-8delinsTCCTTC	ENSP00000505397.1:n.637-13_637-8delinsTCC...
ENST00000383781.8:c.607-13_607-8delinsTCCTTC	ENSP00000373291.3:n.607-13_607-8delinsTCC...
ENST00000383786.9:c.535-13_535-8delinsTCCTTC	ENSP00000373296.3:n.535-13_535-8delinsTCC...
ENST00000383788.9:c.637-13_637-8delinsTCCTTC	ENSP00000373298.3:n.637-13_637-8delinsTCC...
ENST00000603808.5:c.637-13_637-8delinsTCCTTC	ENSP00000474271.1:n.637-13_637-8delinsTCC...
ENST00000605797.1:c.466-13_466-8delinsTCCTTC	ENSP00000474936.1:n.466-13_466-8delinsTCC...
NM_005677.3:c.637-13_637-8delinsTCCTTC	NP_005668.2:n.637-13_637-8delinsTCCTTC
NM_080538.2:c.607-13_607-8delinsTCCTTC	NP_536799.1:n.607-13_607-8delinsTCCTTC
NM_080539.3:c.535-13_535-8delinsTCCTTC	NP_536800.2:n.535-13_535-8delinsTCCTTC
NM_005677.4:c.637-13_637-8delinsTCCTTC MANE Select	NP_005668.2:n.637-13_637-8delinsTCCTTC
NM_080539.4:c.535-13_535-8delinsTCCTTC	NP_536800.2:n.535-13_535-8delinsTCCTTC