Canonical Allele Identifier: CA2587209005

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015723-C-CCCAGAGACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015724_55015725insCAGAGACTTC , CM000681.2:g.55015724_55015725insCAGAGACTTC	GRCh38
NC_000019.8:g.60218904_60218905insCAGAGACTTC	NCBI36
NG_031963.2:g.27541_27542insAAGTCTCTGG , LRG_560:g.27541_27542insAAGTCTCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.734_735insAAGTCTCTGG (GP6)	ENSP00000308782.3:p.Ile247LeufsTer17
ENST00000333884.2:c.680_681insAAGTCTCTGG (GP6)	ENSP00000334552.2:p.Ile229LeufsTer?
ENST00000417454.5:c.734_735insAAGTCTCTGG (GP6) MANE Select	ENSP00000394922.1:p.Ile247LeufsTer?
ENST00000465648.1:n.178_179insAAGTCTCTGG (GP6)
NM_001083899.2:c.734_735insAAGTCTCTGG , LRG_560t3:c.734_735insAAGTCTCTGG (GP6)	NP_001077368.2:p.Ile247LeufsTer17
NM_001256017.2:c.680_681insAAGTCTCTGG , LRG_560t2:c.680_681insAAGTCTCTGG (GP6)	NP_001242946.2:p.Ile229LeufsTer?
NM_016363.5:c.734_735insAAGTCTCTGG , LRG_560t1:c.734_735insAAGTCTCTGG (GP6) MANE Select	NP_057447.5:p.Ile247LeufsTer?
XR_001754012.2:n.312+9260_312+9261insCAGAGACTTC (GP6-AS1)
XR_001754013.2:n.305+9260_305+9261insCAGAGACTTC (GP6-AS1)