Canonical Allele Identifier: CA1347592959

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478975_15478979delinsACCTT , CM000665.2:g.15478975_15478979delinsACCTT	GRCh38
NC_000003.11:g.15520482_15520486delinsACCTT , CM000665.1:g.15520482_15520486delinsACCTT	GRCh37
NC_000003.10:g.15495486_15495490delinsACCTT	NCBI36
NG_009032.1:g.47773_47777delinsAAGGT
NG_009032.2:g.47773_47777delinsAAGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.391_393+2delinsAAGGT
ENST00000679838.1:c.*153_*155+2delinsAAGGT
ENST00000681097.1:c.391_393+2delinsAAGGT
ENST00000383781.8:c.361_363+2delinsAAGGT
ENST00000383786.9:c.289_291+2delinsAAGGT
ENST00000383788.9:c.391_393+2delinsAAGGT
ENST00000603469.1:n.62_66delinsAAGGT
ENST00000603808.5:c.391_393+2delinsAAGGT
ENST00000605797.1:c.220_222+2delinsAAGGT
NM_005677.3:c.391_393+2delinsAAGGT
NM_080538.2:c.361_363+2delinsAAGGT
NM_080539.3:c.289_291+2delinsAAGGT
NM_005677.4:c.391_393+2delinsAAGGT
NM_080539.4:c.289_291+2delinsAAGGT