Canonical Allele Identifier: CA916840829

Gene: COLQ

Linked Data

• dbSNP Id: rs1575477183
• gnomAD v3: 3-15479238-CAT-C
• gnomAD v4: 3-15479238-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479239_15479240del , CM000665.2:g.15479239_15479240del	GRCh38
NC_000003.11:g.15520746_15520747del , CM000665.1:g.15520746_15520747del	GRCh37
NC_000003.10:g.15495750_15495751del	NCBI36
NG_009032.1:g.47512_47513del
NG_009032.2:g.47512_47513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+98_366+99del MANE Select	ENSP00000373298.3:n.366+98_366+99del
ENST00000679838.1:c.*128+98_*128+99del	ENSP00000505708.1:n.*128+98_*128+99del
ENST00000681097.1:c.366+98_366+99del	ENSP00000505397.1:n.366+98_366+99del
ENST00000383781.8:c.336+98_336+99del	ENSP00000373291.3:n.336+98_336+99del
ENST00000383786.9:c.264+98_264+99del	ENSP00000373296.3:n.264+98_264+99del
ENST00000383788.9:c.366+98_366+99del	ENSP00000373298.3:n.366+98_366+99del
ENST00000603469.1:n.37+98_37+99del
ENST00000603808.5:c.366+98_366+99del	ENSP00000474271.1:n.366+98_366+99del
ENST00000605797.1:c.195+98_195+99del	ENSP00000474936.1:n.195+98_195+99del
NM_005677.3:c.366+98_366+99del	NP_005668.2:n.366+98_366+99del
NM_080538.2:c.336+98_336+99del	NP_536799.1:n.336+98_336+99del
NM_080539.3:c.264+98_264+99del	NP_536800.2:n.264+98_264+99del
NM_005677.4:c.366+98_366+99del MANE Select	NP_005668.2:n.366+98_366+99del
NM_080539.4:c.264+98_264+99del	NP_536800.2:n.264+98_264+99del