Canonical Allele Identifier: CA2689953248

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37426550-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37426552del , CM000671.2:g.37426552del	GRCh38
NC_000009.11:g.37426549del , CM000671.1:g.37426549del	GRCh37
NC_000009.10:g.37416549del	NCBI36
NG_008135.1:g.8843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.302del MANE Select	ENSP00000313432.6:p.Gly101AlafsTer7
ENST00000318158.10:c.302del	ENSP00000313432.6:p.Gly101AlafsTer7
ENST00000377824.8:n.339del
ENST00000460882.5:n.329del
ENST00000487399.5:n.854del
ENST00000491488.5:n.110-1932del
ENST00000493368.5:n.359del
ENST00000607784.1:c.302del	ENSP00000475569.1:p.Gly101AlafsTer7
NM_012203.1:c.302del	NP_036335.1:p.Gly101AlafsTer7
XM_005251631.1:c.84-1932del	XP_005251688.1:n.84-1932del
XM_011518073.1:c.-461del	XP_011516375.1:n.-461del
XR_929374.1:n.387del
XM_017015320.2:c.302del	XP_016870809.1:p.Gly101AlafsTer7
XM_017015321.2:c.302del	XP_016870810.1:p.Gly101AlafsTer7
XM_017015323.2:c.-461del	XP_016870812.1:n.-461del
XM_024447716.1:c.575del	XP_024303484.1:p.Gly192AlafsTer7
XM_024447717.1:c.575del	XP_024303485.1:p.Gly192AlafsTer7
XR_002956828.1:n.590del
XR_002956829.1:n.590del
XR_002956830.1:n.361del
XR_002956831.1:n.139-1932del
XR_002956832.1:n.361del
NM_012203.2:c.302del MANE Select	NP_036335.1:p.Gly101AlafsTer7