Canonical Allele Identifier: CA2276201

Gene: COLQ

Linked Data

• dbSNP Id: rs774607265
• ExAC: 3:15520482 ACCTT / A
• gnomAD v2: 3-15520482-ACCTT-A
• MyVariant Identifiers: chr3:g.15520483_15520486del (hg19) ; chr3:g.15478976_15478979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478983_15478986del , CM000665.2:g.15478983_15478986del	GRCh38
NC_000003.11:g.15520490_15520493del , CM000665.1:g.15520490_15520493del	GRCh37
NC_000003.10:g.15495494_15495497del	NCBI36
NG_009032.1:g.47773_47776del
NG_009032.2:g.47773_47776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.391_393+1del
ENST00000679838.1:c.*153_*155+1del
ENST00000681097.1:c.391_393+1del
ENST00000383781.8:c.361_363+1del
ENST00000383786.9:c.289_291+1del
ENST00000383788.9:c.391_393+1del
ENST00000603469.1:n.62_65del
ENST00000603808.5:c.391_393+1del
ENST00000605797.1:c.220_222+1del
NM_005677.3:c.391_393+1del
NM_080538.2:c.361_363+1del
NM_080539.3:c.289_291+1del
NM_005677.4:c.391_393+1del
NM_080539.4:c.289_291+1del