Canonical Allele Identifier: CA1347593082

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479238_15479240delinsCAT , CM000665.2:g.15479238_15479240delinsCAT	GRCh38
NC_000003.11:g.15520745_15520747delinsCAT , CM000665.1:g.15520745_15520747delinsCAT	GRCh37
NC_000003.10:g.15495749_15495751delinsCAT	NCBI36
NG_009032.1:g.47512_47514delinsATG
NG_009032.2:g.47512_47514delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+98_366+100delinsATG MANE Select	ENSP00000373298.3:n.366+98_366+100delinsATG
ENST00000679838.1:c.*128+98_*128+100delinsATG	ENSP00000505708.1:n.*128+98_*128+100delinsATG
ENST00000681097.1:c.366+98_366+100delinsATG	ENSP00000505397.1:n.366+98_366+100delinsATG
ENST00000383781.8:c.336+98_336+100delinsATG	ENSP00000373291.3:n.336+98_336+100delinsATG
ENST00000383786.9:c.264+98_264+100delinsATG	ENSP00000373296.3:n.264+98_264+100delinsATG
ENST00000383788.9:c.366+98_366+100delinsATG	ENSP00000373298.3:n.366+98_366+100delinsATG
ENST00000603469.1:n.37+98_37+100delinsATG
ENST00000603808.5:c.366+98_366+100delinsATG	ENSP00000474271.1:n.366+98_366+100delinsATG
ENST00000605797.1:c.195+98_195+100delinsATG	ENSP00000474936.1:n.195+98_195+100delinsATG
NM_005677.3:c.366+98_366+100delinsATG	NP_005668.2:n.366+98_366+100delinsATG
NM_080538.2:c.336+98_336+100delinsATG	NP_536799.1:n.336+98_336+100delinsATG
NM_080539.3:c.264+98_264+100delinsATG	NP_536800.2:n.264+98_264+100delinsATG
NM_005677.4:c.366+98_366+100delinsATG MANE Select	NP_005668.2:n.366+98_366+100delinsATG
NM_080539.4:c.264+98_264+100delinsATG	NP_536800.2:n.264+98_264+100delinsATG