Canonical Allele Identifier: CA541362130

Gene: COLQ

Linked Data

• dbSNP Id: rs1180037966
• gnomAD v2: 3-15520818-AG-A
• gnomAD v3: 3-15479311-AG-A
• gnomAD v4: 3-15479311-AG-A
• MyVariant Identifiers: chr3:g.15520819del (hg19) ; chr3:g.15479312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479314del , CM000665.2:g.15479314del	GRCh38
NC_000003.11:g.15520821del , CM000665.1:g.15520821del	GRCh37
NC_000003.10:g.15495825del	NCBI36
NG_009032.1:g.47440del
NG_009032.2:g.47440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.366+26del MANE Select	ENSP00000373298.3:n.366+26del
ENST00000679838.1:c.*128+26del	ENSP00000505708.1:n.*128+26del
ENST00000681097.1:c.366+26del	ENSP00000505397.1:n.366+26del
ENST00000383781.8:c.336+26del	ENSP00000373291.3:n.336+26del
ENST00000383786.9:c.264+26del	ENSP00000373296.3:n.264+26del
ENST00000383788.9:c.366+26del	ENSP00000373298.3:n.366+26del
ENST00000603469.1:n.37+26del
ENST00000603808.5:c.366+26del	ENSP00000474271.1:n.366+26del
ENST00000605797.1:c.195+26del	ENSP00000474936.1:n.195+26del
NM_005677.3:c.366+26del	NP_005668.2:n.366+26del
NM_080538.2:c.336+26del	NP_536799.1:n.336+26del
NM_080539.3:c.264+26del	NP_536800.2:n.264+26del
NM_005677.4:c.366+26del MANE Select	NP_005668.2:n.366+26del
NM_080539.4:c.264+26del	NP_536800.2:n.264+26del