Canonical Allele Identifier: CA2587208928
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

gnomAD v4: 19-55015635-AAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015639_55015640del , CM000681.2:g.55015639_55015640del GRCh38
NC_000019.8:g.60218819_60218820del NCBI36
NG_031963.2:g.27628_27629del , LRG_560:g.27628_27629del

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.779+42_779+43del (GP6) ENSP00000308782.3:n.779+42_779+43del
ENST00000333884.2:c.721+46_721+47del (GP6) ENSP00000334552.2:n.721+46_721+47del
ENST00000417454.5:c.775+46_775+47del (GP6) MANE Select ENSP00000394922.1:n.775+46_775+47del
ENST00000465648.1:n.219+46_219+47del (GP6)
NM_001083899.2:c.779+42_779+43del , LRG_560t3:c.779+42_779+43del (GP6) NP_001077368.2:n.779+42_779+43del
NM_001256017.2:c.721+46_721+47del , LRG_560t2:c.721+46_721+47del (GP6) NP_001242946.2:n.721+46_721+47del
NM_016363.5:c.775+46_775+47del , LRG_560t1:c.775+46_775+47del (GP6) MANE Select NP_057447.5:n.775+46_775+47del
XR_001754012.2:n.312+9175_312+9176del (GP6-AS1)
XR_001754013.2:n.305+9175_305+9176del (GP6-AS1)
Search 100 bp 5'
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