Canonical Allele Identifier: CA2580614148

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458269_15458270del , CM000665.2:g.15458269_15458270del	GRCh38
NC_000003.11:g.15499776_15499777del , CM000665.1:g.15499776_15499777del	GRCh37
NC_000003.10:g.15474780_15474781del	NCBI36
NG_009032.1:g.68482_68483del
NG_009032.2:g.68482_68483del

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.870_871del MANE Select	NP_005668.2:p.Cys291SerfsTer10
ENST00000383788.10:c.870_871del MANE Select	ENSP00000373298.3:p.Cys291SerfsTer10
NM_005677.3:c.870_871del	NP_005668.2:p.Cys291SerfsTer10
NM_080538.2:c.840_841del	NP_536799.1:p.Cys281SerfsTer10
NM_080539.3:c.768_769del	NP_536800.2:p.Cys257SerfsTer10
NM_080539.4:c.768_769del	NP_536800.2:p.Cys257SerfsTer10
ENST00000383781.8:c.840_841del	ENSP00000373291.3:p.Cys281SerfsTer10
ENST00000383786.9:c.768_769del	ENSP00000373296.3:p.Cys257SerfsTer10
ENST00000383788.9:c.870_871del	ENSP00000373298.3:p.Cys291SerfsTer10
ENST00000603808.5:c.870_871del	ENSP00000474271.1:p.Cys291SerfsTer10
ENST00000604401.2:n.811-1691_811-1690del
ENST00000679838.1:c.*632_*633del	ENSP00000505708.1:n.*632_*633del
ENST00000680240.1:n.599_600del
ENST00000680545.1:n.636_637del
ENST00000681097.1:c.815-1691_815-1690del	ENSP00000505397.1:n.815-1691_815-1690del
ENST00000681222.1:n.2755_2756del