Canonical Allele Identifier: CA2576890589

Gene: GP6 GP6-AS1

Linked Data

• gnomAD v4: 19-55015710-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55015713_55015715del , CM000681.2:g.55015713_55015715del	GRCh38
NC_000019.8:g.60218893_60218895del	NCBI36
NG_031963.2:g.27552_27554del , LRG_560:g.27552_27554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310373.7:c.745_747del (GP6)	ENSP00000308782.3:p.Ala249del
ENST00000333884.2:c.691_693del (GP6)	ENSP00000334552.2:p.Ala231del
ENST00000417454.5:c.745_747del (GP6) MANE Select	ENSP00000394922.1:p.Ala249del
ENST00000465648.1:n.189_191del (GP6)
NM_001083899.2:c.745_747del , LRG_560t3:c.745_747del (GP6)	NP_001077368.2:p.Ala249del
NM_001256017.2:c.691_693del , LRG_560t2:c.691_693del (GP6)	NP_001242946.2:p.Ala231del
NM_016363.5:c.745_747del , LRG_560t1:c.745_747del (GP6) MANE Select	NP_057447.5:p.Ala249del
XR_001754012.2:n.312+9249_312+9251del (GP6-AS1)
XR_001754013.2:n.305+9249_305+9251del (GP6-AS1)