Canonical Allele Identifier: CA2580097800

Gene: GP6 GP6-AS1

Linked Data

• ClinVar Variation Id: 2179397
• ClinVar RCV Id: RCV002599034

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55014977_55014978delinsGA , CM000681.2:g.55014977_55014978delinsGA	GRCh38
NC_000019.8:g.60218157_60218158delinsGA	NCBI36
NG_031963.2:g.28287_28288delinsTC , LRG_560:g.28287_28288delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310373.7:c.967_968delinsTC (GP6)	ENSP00000308782.3:p.Lys323Ser
ENST00000333884.2:c.909_910delinsTC (GP6)	ENSP00000334552.2:p.Asn304His
ENST00000417454.5:c.963_964delinsTC (GP6) MANE Select	ENSP00000394922.1:p.Asn322His
ENST00000465648.1:n.407_408delinsTC (GP6)
NM_001083899.2:c.967_968delinsTC , LRG_560t3:c.967_968delinsTC (GP6)	NP_001077368.2:p.Lys323Ser
NM_001256017.2:c.909_910delinsTC , LRG_560t2:c.909_910delinsTC (GP6)	NP_001242946.2:p.Asn304His
NM_016363.5:c.963_964delinsTC , LRG_560t1:c.963_964delinsTC (GP6) MANE Select	NP_057447.5:p.Asn322His
XR_001754012.2:n.312+8513_312+8514delinsGA (GP6-AS1)
XR_001754013.2:n.305+8513_305+8514delinsGA (GP6-AS1)