Canonical Allele Identifier: CA2587209009
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

gnomAD v4: 19-55015727-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015729del , CM000681.2:g.55015729del GRCh38
NC_000019.8:g.60218909del NCBI36
NG_031963.2:g.27537del , LRG_560:g.27537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310373.7:c.730del (GP6) ENSP00000308782.3:p.Ser244LeufsTer?
ENST00000333884.2:c.676del (GP6) ENSP00000334552.2:p.Ser226LeufsTer?
ENST00000417454.5:c.730del (GP6) MANE Select ENSP00000394922.1:p.Ser244LeufsTer?
ENST00000465648.1:n.174del (GP6)
NM_001083899.2:c.730del , LRG_560t3:c.730del (GP6) NP_001077368.2:p.Ser244LeufsTer?
NM_001256017.2:c.676del , LRG_560t2:c.676del (GP6) NP_001242946.2:p.Ser226LeufsTer?
NM_016363.5:c.730del , LRG_560t1:c.730del (GP6) MANE Select NP_057447.5:p.Ser244LeufsTer?
XR_001754012.2:n.312+9265del (GP6-AS1)
XR_001754013.2:n.305+9265del (GP6-AS1)
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