Canonical Allele Identifier: CA5058959

Gene: GRHPR

Linked Data

• dbSNP Id: rs756763137
• ExAC: 9:37425889 GAT / G
• gnomAD v2: 9-37425889-GAT-G
• gnomAD v4: 9-37425892-GAT-G
• MyVariant Identifiers: chr9:g.37425890_37425891del (hg19) ; chr9:g.37425894_37425895del (hg38) ; chr9:g.37425893_37425894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37425894_37425895del , CM000671.2:g.37425894_37425895del	GRCh38
NC_000009.11:g.37425891_37425892del , CM000671.1:g.37425891_37425892del	GRCh37
NC_000009.10:g.37415891_37415892del	NCBI36
NG_008135.1:g.8185_8186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.215-28_215-27del MANE Select	ENSP00000313432.6:n.215-28_215-27del
ENST00000318158.10:c.215-28_215-27del	ENSP00000313432.6:n.215-28_215-27del
ENST00000377824.8:n.252-28_252-27del
ENST00000460882.5:n.242-28_242-27del
ENST00000487399.5:n.224-28_224-27del
ENST00000491488.5:n.110-2590_110-2589del
ENST00000493368.5:n.272-28_272-27del
ENST00000607784.1:c.215-28_215-27del	ENSP00000475569.1:n.215-28_215-27del
NM_012203.1:c.215-28_215-27del	NP_036335.1:n.215-28_215-27del
XM_005251631.1:c.84-2590_84-2589del	XP_005251688.1:n.84-2590_84-2589del
XM_011518073.1:c.-548-28_-548-27del	XP_011516375.1:n.-548-28_-548-27del
XR_929374.1:n.300-28_300-27del
XM_017015320.2:c.215-28_215-27del	XP_016870809.1:n.215-28_215-27del
XM_017015321.2:c.215-28_215-27del	XP_016870810.1:n.215-28_215-27del
XM_017015323.2:c.-548-28_-548-27del	XP_016870812.1:n.-548-28_-548-27del
XM_024447716.1:c.488-28_488-27del	XP_024303484.1:n.488-28_488-27del
XM_024447717.1:c.488-28_488-27del	XP_024303485.1:n.488-28_488-27del
XR_002956828.1:n.503-28_503-27del
XR_002956829.1:n.503-28_503-27del
XR_002956830.1:n.274-28_274-27del
XR_002956831.1:n.139-2590_139-2589del
XR_002956832.1:n.274-28_274-27del
NM_012203.2:c.215-28_215-27del MANE Select	NP_036335.1:n.215-28_215-27del