Canonical Allele Identifier: CA2587209003

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015721-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015722del , CM000681.2:g.55015722del	GRCh38
NC_000019.8:g.60218902del	NCBI36
NG_031963.2:g.27543del , LRG_560:g.27543del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.736del (GP6)	ENSP00000308782.3:p.Ser246ValfsTer?
ENST00000333884.2:c.682del (GP6)	ENSP00000334552.2:p.Ser228ValfsTer?
ENST00000417454.5:c.736del (GP6) MANE Select	ENSP00000394922.1:p.Ser246ValfsTer?
ENST00000465648.1:n.180del (GP6)
NM_001083899.2:c.736del , LRG_560t3:c.736del (GP6)	NP_001077368.2:p.Ser246ValfsTer?
NM_001256017.2:c.682del , LRG_560t2:c.682del (GP6)	NP_001242946.2:p.Ser228ValfsTer?
NM_016363.5:c.736del , LRG_560t1:c.736del (GP6) MANE Select	NP_057447.5:p.Ser246ValfsTer?
XR_001754012.2:n.312+9258del (GP6-AS1)
XR_001754013.2:n.305+9258del (GP6-AS1)