Canonical Allele Identifier: CA310122338

Gene: GP6 GP6-AS1

Linked Data

• dbSNP Id: rs755849819
• gnomAD v3: 19-55015783-CCT-C
• gnomAD v4: 19-55015783-CCT-C
• MyVariant Identifiers: chr19:g.55015784_55015785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015784_55015785del , CM000681.2:g.55015784_55015785del	GRCh38
NC_000019.8:g.60218964_60218965del	NCBI36
NG_031963.2:g.27480_27481del , LRG_560:g.27480_27481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310373.7:c.725-52_725-51del (GP6)	ENSP00000308782.3:n.725-52_725-51del
ENST00000333884.2:c.671-52_671-51del (GP6)	ENSP00000334552.2:n.671-52_671-51del
ENST00000417454.5:c.725-52_725-51del (GP6) MANE Select	ENSP00000394922.1:n.725-52_725-51del
ENST00000465648.1:n.169-52_169-51del (GP6)
NM_001083899.2:c.725-52_725-51del , LRG_560t3:c.725-52_725-51del (GP6)	NP_001077368.2:n.725-52_725-51del
NM_001256017.2:c.671-52_671-51del , LRG_560t2:c.671-52_671-51del (GP6)	NP_001242946.2:n.671-52_671-51del
NM_016363.5:c.725-52_725-51del , LRG_560t1:c.725-52_725-51del (GP6) MANE Select	NP_057447.5:n.725-52_725-51del
XR_001754012.2:n.312+9320_312+9321del (GP6-AS1)
XR_001754013.2:n.305+9320_305+9321del (GP6-AS1)