Canonical Allele Identifier: CA2587208925
Gene: GP6 HGNC NCBI
GP6-AS1 HGNC NCBI

Linked Data

gnomAD v4: 19-55015630-T-TGGTGAAGAGACG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55015636_55015647dup , CM000681.2:g.55015636_55015647dup GRCh38
NC_000019.8:g.60218816_60218827dup NCBI36
NG_031963.2:g.27623_27634dup , LRG_560:g.27623_27634dup

Transcript Alleles

HGVS Amino-acid change
ENST00000310373.7:c.779+37_779+48dup (GP6) ENSP00000308782.3:n.779+37_779+48dup
ENST00000333884.2:c.721+41_721+52dup (GP6) ENSP00000334552.2:n.721+41_721+52dup
ENST00000417454.5:c.775+41_775+52dup (GP6) MANE Select ENSP00000394922.1:n.775+41_775+52dup
ENST00000465648.1:n.219+41_219+52dup (GP6)
NM_001083899.2:c.779+37_779+48dup , LRG_560t3:c.779+37_779+48dup (GP6) NP_001077368.2:n.779+37_779+48dup
NM_001256017.2:c.721+41_721+52dup , LRG_560t2:c.721+41_721+52dup (GP6) NP_001242946.2:n.721+41_721+52dup
NM_016363.5:c.775+41_775+52dup , LRG_560t1:c.775+41_775+52dup (GP6) MANE Select NP_057447.5:n.775+41_775+52dup
XR_001754012.2:n.312+9172_312+9183dup (GP6-AS1)
XR_001754013.2:n.305+9172_305+9183dup (GP6-AS1)
Search 100 bp 5'
Search 100 bp 3'