Canonical Allele Identifier: CA2587209054

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015764-T-TGAAACCATATTCCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015778_55015779insAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATCGAAACCATATTCCC , CM000681.2:g.55015778_55015779insAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATCGAAACCATATTCCC	GRCh38
NC_000019.8:g.60218958_60218959insAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATCGAAACCATATTCCC	NCBI36
NG_031963.2:g.27500_27501insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC , LRG_560:g.27500_27501insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310373.7:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6)	ENSP00000308782.3:n.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCC...
ENST00000333884.2:c.671-32_671-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6)	ENSP00000334552.2:n.671-32_671-31insGATCTCCTGAACTCGTGATCCGCCC...
ENST00000417454.5:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6) MANE Select	ENSP00000394922.1:n.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCC...
ENST00000465648.1:n.169-32_169-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6)
NM_001083899.2:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC , LRG_560t3:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6)	NP_001077368.2:n.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCC...
NM_001256017.2:c.671-32_671-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC , LRG_560t2:c.671-32_671-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6)	NP_001242946.2:n.671-32_671-31insGATCTCCTGAACTCGTGATCCGCCCGCC...
NM_016363.5:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC , LRG_560t1:c.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGGGAATATGGTTTC (GP6) MANE Select	NP_057447.5:n.725-32_725-31insGATCTCCTGAACTCGTGATCCGCCCGCCTCG...
XR_001754012.2:n.312+9314_312+9315insAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATCGAAACCATATTCCC (GP6-AS1)
XR_001754013.2:n.305+9314_305+9315insAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGATCGAAACCATATTCCC (GP6-AS1)